Variant report

Variant	nsv1000552
Chromosome Location	chr1:144008574-144471989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2344)
CpG islands
(count:367)
Chromatin interactive
region (count:15)
LncRNA
region (count:71)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2344 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144009537-144010228	HepG2	liver:	n/a	n/a
2	ATF3	chr1:144009987-144010286	HepG2	liver:	n/a	n/a
3	BATF	chr1:144094860-144095134	GM12878	blood:	n/a	n/a
4	BATF	chr1:144327210-144327464	GM12878	blood:	n/a	n/a
5	BATF	chr1:144078682-144078883	GM12878	blood:	n/a	n/a
6	BATF	chr1:144335102-144335314	GM12878	blood:	n/a	n/a
7	BATF	chr1:144340377-144340881	GM12878	blood:	n/a	n/a
8	BATF	chr1:144157512-144157961	GM12878	blood:	n/a	chr1:144157741-144157749
9	BATF	chr1:144339194-144339724	GM12878	blood:	n/a	n/a
10	BATF	chr1:144379834-144380086	GM12878	blood:	n/a	n/a
11	BATF	chr1:144325736-144326116	GM12878	blood:	n/a	n/a
12	BATF	chr1:144383897-144384409	GM12878	blood:	n/a	n/a
13	BATF	chr1:144383148-144383389	GM12878	blood:	n/a	n/a
14	BATF	chr1:144320981-144321799	GM12878	blood:	n/a	chr1:144321317-144321326
15	BATF	chr1:144389055-144389404	GM12878	blood:	n/a	chr1:144389254-144389265
16	BATF	chr1:144068660-144069151	GM12878	blood:	n/a	chr1:144068921-144068932
17	BATF	chr1:144309943-144310144	GM12878	blood:	n/a	n/a
18	BATF	chr1:144339109-144341237	GM12878	blood:	n/a	n/a
19	BATF	chr1:144355401-144355740	GM12878	blood:	n/a	n/a
20	BATF	chr1:144146857-144147088	GM12878	blood:	n/a	n/a
21	BATF	chr1:144327848-144328102	GM12878	blood:	n/a	n/a
22	BATF	chr1:144355376-144355716	GM12878	blood:	n/a	n/a
23	BATF	chr1:144157508-144157950	GM12878	blood:	n/a	chr1:144157741-144157749
24	BATF	chr1:144310715-144311748	GM12878	blood:	n/a	n/a
25	BATF	chr1:144067068-144067372	GM12878	blood:	n/a	chr1:144067195-144067206
26	BATF	chr1:144379807-144380075	GM12878	blood:	n/a	n/a
27	BATF	chr1:144091634-144091915	GM12878	blood:	n/a	n/a
28	BATF	chr1:144338647-144338871	GM12878	blood:	n/a	n/a
29	BATF	chr1:144068682-144069090	GM12878	blood:	n/a	chr1:144068921-144068932
30	BATF	chr1:144094411-144095211	GM12878	blood:	n/a	chr1:144094595-144094605
31	BATF	chr1:144322789-144323057	GM12878	blood:	n/a	n/a
32	BATF	chr1:144310931-144311678	GM12878	blood:	n/a	n/a
33	BATF	chr1:144333842-144334072	GM12878	blood:	n/a	n/a
34	BATF	chr1:144343242-144343436	GM12878	blood:	n/a	n/a
35	BATF	chr1:144341526-144342037	GM12878	blood:	n/a	n/a
36	BATF	chr1:144341397-144342307	GM12878	blood:	n/a	n/a
37	BATF	chr1:144067020-144067334	GM12878	blood:	n/a	chr1:144067195-144067206
38	BATF	chr1:144389062-144389424	GM12878	blood:	n/a	chr1:144389254-144389265
39	BATF	chr1:144383148-144383357	GM12878	blood:	n/a	n/a
40	BATF	chr1:144328809-144329030	GM12878	blood:	n/a	n/a
41	BATF	chr1:144321363-144321837	GM12878	blood:	n/a	n/a
42	BATF	chr1:144333140-144333410	GM12878	blood:	n/a	n/a
43	BATF	chr1:144314152-144314409	GM12878	blood:	n/a	n/a
44	BATF	chr1:144036890-144037115	GM12878	blood:	n/a	n/a
45	BATF	chr1:144336769-144337135	GM12878	blood:	n/a	n/a
46	BATF	chr1:144328845-144329056	GM12878	blood:	n/a	n/a
47	BATF	chr1:144335044-144335280	GM12878	blood:	n/a	n/a
48	BATF	chr1:144384899-144385095	GM12878	blood:	n/a	n/a
49	BATF	chr1:144383867-144384453	GM12878	blood:	n/a	n/a
50	BATF	chr1:144393767-144394272	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144008937-144008987	T-47D	breast:	n/a
2	chr1:144008937-144008987	T-47D	breast:	n/a
3	chr1:144044138-144044188	SK-N-SH_RA	brain:	n/a
4	chr1:144340103-144340153	SK-N-SH_RA	brain:	n/a
5	chr1:144044138-144044188	HCPEpiC	choroid plexus:	n/a
6	chr1:144015221-144015271	AG04449	skin:	fetal
7	chr1:144044138-144044188	K562	blood:	n/a
8	chr1:144008937-144008987	LNCaP	prostate:	n/a
9	chr1:144044138-144044188	HEEpiC	esophagus:	n/a
10	chr1:144015221-144015271	HUVEC	blood vessel:	n/a
11	chr1:144044138-144044188	PFSK-1	brain:	n/a
12	chr1:144340251-144340301	NHBE	bronchial:	n/a
13	chr1:144008937-144008987	ProgFib	skin:	n/a
14	chr1:144008937-144008987	ovcar-3	ovarian:	n/a
15	chr1:144340103-144340153	RPTEC	kidney:	n/a
16	chr1:144340103-144340153	HCM	heart:	n/a
17	chr1:144015221-144015271	Hela-S3	cervix:	n/a
18	chr1:144044138-144044188	HL-60	blood:	n/a
19	chr1:144340103-144340153	NH-A	brain:	n/a
20	chr1:144340103-144340153	U87	brain:	n/a
21	chr1:144340103-144340153	PFSK-1	brain:	n/a
22	chr1:144044138-144044188	AG09309	skin:	n/a
23	chr1:144340103-144340153	NHDF-neo	bronchial:	n/a
24	chr1:144008937-144008987	CMK	blood:	n/a
25	chr1:144340161-144340211	AoSMC	blood vessel:	n/a
26	chr1:144015221-144015271	HAEpiC	amniotic membrane:	n/a
27	chr1:144340251-144340301	Caco-2	colon:	n/a
28	chr1:144044138-144044188	CMK	blood:	n/a
29	chr1:144008937-144008987	HEK293	kidney:	embryo
30	chr1:144008937-144008987	SAEC	small airway:	n/a
31	chr1:144340161-144340211	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:144015221-144015271	HEEpiC	esophagus:	n/a
33	chr1:144015221-144015271	SK-N-MC	brain:	n/a
34	chr1:144340161-144340211	GM06990	blood:	n/a
35	chr1:144340161-144340211	SK-N-MC	brain:	n/a
36	chr1:144340161-144340211	U87	brain:	n/a
37	chr1:144015221-144015271	Hepatocyte	liver:	n/a
38	chr1:144340161-144340211	PANC-1	pancreas:	n/a
39	chr1:144340251-144340301	SK-N-MC	brain:	n/a
40	chr1:144340251-144340301	PANC-1	pancreas:	n/a
41	chr1:144340251-144340301	HRCEpiC	kidney:	n/a
42	chr1:144008937-144008987	U87	brain:	n/a
43	chr1:144044138-144044188	NB4	blood:	n/a
44	chr1:144008937-144008987	HCM	heart:	n/a
45	chr1:144340251-144340301	HCPEpiC	choroid plexus:	n/a
46	chr1:144015221-144015271	A549	lung:	n/a
47	chr1:144340251-144340301	HRE	kidney:	n/a
48	chr1:144340103-144340153	SK-N-MC	brain:	n/a
49	chr1:144008937-144008987	H1-hESC	embryonic stem cell:	embryo
50	chr1:144340251-144340301	HRPEpiC	eye:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:144003920..144006822-chr1:144010130..144014545,4	K562	blood:
2	chr1:144005391..144007992-chr1:144016509..144019128,2	MCF-7	breast:
3	chr1:144006261..144009396-chr1:144011579..144015331,3	MCF-7	breast:
4	chr1:144008498..144010730-chr1:144011056..144012625,2	MCF-7	breast:
5	chr1:144010495..144012548-chr1:144014486..144017526,3	MCF-7	breast:
6	chr1:144011179..144012723-chr1:144016173..144018871,2	MCF-7	breast:
7	chr1:144011179..144012723-chr1:144016173..144018871,2	MCF-7	breast:
8	chr1:144007296..144010001-chr1:144014414..144016453,2	K562	blood:
9	chr1:144010824..144012800-chr12:56121573..56123817,2	MCF-7	breast:
10	chr1:144007296..144010001-chr1:144014414..144016453,2	K562	blood:
11	chr1:144019336..144020898-chr1:206481705..206484114,2	MCF-7	breast:
12	chr1:144005794..144008523-chr1:144009105..144010733,2	K562	blood:
13	chr1:144008498..144010730-chr1:144011056..144012625,2	MCF-7	breast:
14	chr1:144010495..144012548-chr1:144014486..144017526,3	MCF-7	breast:
15	chr1:144006261..144009396-chr1:144011579..144015331,3	MCF-7	breast:

(count:71 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM72D-1	chr1:144089214-144091251	ENSG00000224363
2	lnc-FAM72D-2	chr1:144085156-144086051	ucscGeneNc_uc001enh_1
3	lnc-FAM72D-1	chr1:144087901-144088049	NONHSAT005764
4	lnc-PPIAL4B-1	chr1:144341670-144341755	NR_024584
5	lnc-PPIAL4B-1	chr1:144336229-144336254	ENSG00000235398
6	lnc-FAM72D-1	chr1:144091810-144091946	ENSG00000224363
7	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005781
8	lnc-FAM72D-1	chr1:144093413-144093754	NONHSAT005764
9	lnc-PPIAL4B-1	chr1:144301325-144301536	ENSG00000235398
10	lnc-PPIAL4B-1	chr1:144340526-144340754	ENSG00000235398
11	lnc-PPIAL4B-1	chr1:144326026-144326185	ENSG00000235398
12	lnc-FAM72D-3	chr1:144086700-144086911	NONHSAT005763
13	lnc-PPIAL4B-1	chr1:144340526-144340773	NR_109754
14	lnc-PPIAL4B-1	chr1:144300512-144301536	NONHSAT005781
15	lnc-PPIAL4B-1	chr1:144280730-144280868	ENSG00000235398
16	lnc-AL592284.1-4	chr1:144167648-144167711	NONHSAT005769
17	lnc-PPIAL4B-1	chr1:144301190-144301536	ENSG00000235398
18	lnc-PPIAL4B-1	chr1:144340526-144340623	NR_024584
19	lnc-PPIAL4B-1	chr1:144339564-144339618	ENSG00000235398
20	lnc-PPIAL4B-1	chr1:144300512-144300755	ENSG00000235398
21	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
22	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
23	lnc-PPIAL4B-1	chr1:144300517-144300755	NR_024584
24	lnc-PPIAL4B-4	chr1:144297622-144297896	expRegAs_chr1_13930_-
25	lnc-PPIAL4B-1	chr1:144300512-144300755	NONHSAT005780
26	lnc-AL592284.1-3	chr1:144213727-144213778	NONHSAT005770
27	lnc-PPIAL4B-1	chr1:144300515-144301536	ENSG00000235398
28	lnc-PPIAL4B-1	chr1:144300512-144300755	NR_109754
29	lnc-PPIAL4B-1	chr1:144326026-144326185	ENSG00000235398
30	lnc-AL592284.1-4	chr1:144166564-144166933	NONHSAT005769
31	lnc-PPIAL4B-1	chr1:144340851-144341057	ENSG00000235398.4
32	lnc-PPIAL4B-1	chr1:144301350-144301536	NR_109754
33	lnc-PPIAL4B-3	chr1:144392143-144392429	NONHSAT005791
34	lnc-PPIAL4B-2	chr1:144461309-144461412	ENSG00000236943.1
35	lnc-FAM72D-1	chr1:144088374-144088668	NONHSAT005766
36	lnc-PPIAL4B-1	chr1:144340526-144340736	ENSG00000235398
37	lnc-PPIAL4B-1	chr1:144340526-144340593	ENSG00000235398
38	lnc-PPIAL4B-1	chr1:144301190-144301536	NONHSAT005780
39	lnc-PPIAL4B-1	chr1:144340526-144340671	ENSG00000235398
40	lnc-PPIAL4B-1	chr1:144301326-144301536	ENSG00000235398.4
41	lnc-FAM72D-3	chr1:144084411-144084864	NONHSAT005763
42	lnc-FAM72D-1	chr1:144088423-144088668	NONHSAT005767
43	lnc-FAM72D-1	chr1:144093413-144093719	NONHSAT005766
44	lnc-AL592284.1-3	chr1:144215316-144215424	NONHSAT005770
45	lnc-PPIAL4B-2	chr1:144460973-144461111	ENSG00000236943.1
46	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398
47	lnc-FAM72D-1	chr1:144089281-144089406	NONHSAT005767
48	lnc-FAM72D-1	chr1:144088374-144088668	NONHSAT005765
49	lnc-PPIAL4B-2	chr1:144460626-144460872	ENSG00000236943.1
50	lnc-FAM72D-3	chr1:144083445-144085155	ucscGeneNc_uc001eng_1

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NBPF15	hsa-let-7b-5p	chr1:144166620-144166640
2	NBPF15	hsa-let-7b-5p	chr1:144199965-144199985
3	NBPF15	hsa-let-7b-5p	chr1:144174551-144174571

Variant related genes	Relation type
ENSG00000236943	TF binding region
PPIAL4B	TF binding region
ENSG00000271223	TF binding region
RNVU1-4	TF binding region
ENSG00000271644	TF binding region
ENSG00000231360	TF binding region
ENSG00000224363	TF binding region
NBPF8	TF binding region
LINC00623	TF binding region
ENSG00000236943	CpG island
PPIAL4B	CpG island
ENSG00000271223	CpG island
RNVU1-4	CpG island
ENSG00000271644	CpG island
ENSG00000231360	CpG island
ENSG00000224363	CpG island
NBPF8	CpG island
LINC00623	CpG island
ENSG00000135404	chromatin interactions
ENSG00000258056	chromatin interactions

Extended variants
information (count: 2601 )
Associated
traits (count: 178 )

Variant overlapped rSNPs/rCNVs (count:2601 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587653954	chr1:144008594-144008595	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587686899	chr1:144008600-144008601	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7536026	chr1:144008611-144008612	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12127414	chr1:144008618-144008619	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12127397	chr1:144008658-144008659	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6600704	chr1:144008672-144008673	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587769602	chr1:144008745-144008746	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587616489	chr1:144008849-144008850	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587698373	chr1:144008854-144008855	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587750542	chr1:144008869-144008870	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587632252	chr1:144008887-144008888	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587689757	chr1:144008903-144008904	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587755552	chr1:144008920-144008921	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587650959	chr1:144008936-144008937	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587710227	chr1:144008940-144008941	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587765255	chr1:144008957-144008958	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587629243	chr1:144008961-144008962	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587714907	chr1:144009008-144009009	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6691358	chr1:144009009-144009010	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587595652	chr1:144009011-144009012	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587670627	chr1:144009031-144009032	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12033165	chr1:144009053-144009054	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587733870	chr1:144009065-144009066	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6698999	chr1:144009118-144009119	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201779728	chr1:144009132-144009133	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6695951	chr1:144009150-144009151	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12034007	chr1:144009172-144009173	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587629753	chr1:144009190-144009191	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587690586	chr1:144009191-144009192	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6698900	chr1:144009215-144009216	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs587769539	chr1:144009255-144009256	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs587619840	chr1:144009265-144009266	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs587671711	chr1:144009329-144009330	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs4140459	chr1:144009332-144009333	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7548492	chr1:144009367-144009368	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs587610352	chr1:144009405-144009406	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs4140458	chr1:144009411-144009412	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs587695950	chr1:144009444-144009445	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368492900	chr1:144009452-144009453	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs372233048	chr1:144009458-144009459	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs974841	chr1:144009478-144009479	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs142401062	chr1:144009557-144009558	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs587755764	chr1:144009584-144009585	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs4844792	chr1:144009608-144009609	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587628596	chr1:144009664-144009665	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587681886	chr1:144009691-144009692	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587754876	chr1:144009693-144009694	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587638197	chr1:144009710-144009711	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs974840	chr1:144009711-144009712	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375559872	chr1:144009743-144009744	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:178)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Schizophrenia	19197363	CNVD
Dyslexia	22102821	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	19805367	CNVD
Lung adenocarcinoma	21935476	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Autism	20841430	CNVD

Chromatin state (count:1354 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:143999200-144013800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr1:143999200-144013800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:143999200-144013800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:143999200-144013800	Weak transcription	Dnd41	blood
5	chr1:143999200-144014000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:144001600-144009600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:144002800-144013600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:144003800-144013800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:144005000-144008800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:144005200-144008600	Strong transcription	Primary B cells from cord blood	blood
11	chr1:144005600-144010400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:144005800-144008800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:144005800-144009600	Weak transcription	Fetal Intestine Large	intestine
14	chr1:144006400-144015600	Genic enhancers	Fetal Muscle Leg	muscle
15	chr1:144006400-144019400	Strong transcription	Primary T cells from cord blood	blood
16	chr1:144006600-144008600	Enhancers	Brain Germinal Matrix	brain
17	chr1:144006600-144009200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:144006600-144010200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:144006600-144010600	Enhancers	Placenta	Placenta
20	chr1:144006600-144011400	Enhancers	Left Ventricle	heart
21	chr1:144006600-144011400	Enhancers	Ovary	ovary
22	chr1:144006600-144013200	Enhancers	Spleen	Spleen
23	chr1:144006600-144014200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:144006800-144009000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:144006800-144009600	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:144006800-144009600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:144006800-144009800	Enhancers	NHLF	lung
28	chr1:144006800-144010400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:144006800-144011000	Enhancers	K562	blood
30	chr1:144006800-144011400	Enhancers	Lung	lung
31	chr1:144006800-144012200	Enhancers	HUVEC	blood vessel
32	chr1:144006800-144013200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:144006800-144013600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:144006800-144013800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:144006800-144014000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:144006800-144015200	Enhancers	Right Atrium	heart
37	chr1:144007000-144009000	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:144007200-144008800	Enhancers	Fetal Kidney	kidney
39	chr1:144007200-144009600	Enhancers	Brain Substantia Nigra	brain
40	chr1:144007200-144013000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr1:144007200-144013800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:144007400-144009000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr1:144007400-144009000	Flanking Active TSS	Fetal Brain Male	brain
44	chr1:144007400-144011000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:144007400-144011200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:144007400-144011200	Enhancers	Fetal Lung	lung
47	chr1:144007400-144011400	Enhancers	Fetal Heart	heart
48	chr1:144007400-144011400	Enhancers	Stomach Mucosa	stomach
49	chr1:144007400-144011800	Enhancers	Colon Smooth Muscle	Colon
50	chr1:144007400-144012400	Enhancers	Adipose Nuclei	Adipose

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