Variant report

Variant	nsv915933
Chromosome Location	chr1:120323527-120471049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2108)
CpG islands
(count:2140)
Chromatin interactive
region (count:129)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:12)

(count:2108 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:120413559-120413886	K562	blood:	n/a	n/a
2	ARID3A	chr1:120416643-120417039	K562	blood:	n/a	n/a
3	ARID3A	chr1:120441825-120442392	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:120425053-120425244	K562	blood:	n/a	n/a
5	ARID3A	chr1:120413558-120413989	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:120386952-120387123	K562	blood:	n/a	n/a
7	ARID3A	chr1:120358759-120359483	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:120422885-120422997	K562	blood:	n/a	n/a
9	ARID3A	chr1:120392364-120392392	K562	blood:	n/a	n/a
10	ARID3A	chr1:120333127-120333726	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:120402048-120402592	K562	blood:	n/a	n/a
12	ATF1	chr1:120398236-120398340	K562	blood:	n/a	n/a
13	ATF1	chr1:120402001-120402616	K562	blood:	n/a	n/a
14	ATF1	chr1:120357965-120358518	K562	blood:	n/a	n/a
15	ATF1	chr1:120462961-120463475	K562	blood:	n/a	n/a
16	ATF1	chr1:120325635-120326250	K562	blood:	n/a	n/a
17	ATF1	chr1:120426630-120426696	K562	blood:	n/a	n/a
18	ATF1	chr1:120359097-120359796	K562	blood:	n/a	n/a
19	ATF1	chr1:120383498-120383699	K562	blood:	n/a	n/a
20	ATF1	chr1:120410011-120410219	K562	blood:	n/a	n/a
21	ATF1	chr1:120391966-120392057	K562	blood:	n/a	n/a
22	ATF3	chr1:120402162-120402649	K562	blood:	n/a	n/a
23	BACH1	chr1:120430266-120430308	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr1:120416965-120417243	K562	blood:	n/a	chr1:120417090-120417104
25	BACH1	chr1:120412409-120412437	K562	blood:	n/a	n/a
26	BACH1	chr1:120431362-120431386	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr1:120334345-120334441	K562	blood:	n/a	n/a
28	BATF	chr1:120386780-120387005	GM12878	blood:	n/a	n/a
29	BATF	chr1:120329142-120329400	GM12878	blood:	n/a	chr1:120329263-120329274
30	BATF	chr1:120386771-120387113	GM12878	blood:	n/a	n/a
31	BATF	chr1:120329132-120329415	GM12878	blood:	n/a	chr1:120329263-120329274
32	BATF	chr1:120416320-120416558	GM12878	blood:	n/a	chr1:120416427-120416438 chr1:120416428-120416438
33	BCL11A	chr1:120387330-120387656	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:120329165-120329498	GM12878	blood:	n/a	n/a
35	BHLHE40	chr1:120387086-120387158	K562	blood:	n/a	n/a
36	BHLHE40	chr1:120351653-120351866	K562	blood:	n/a	n/a
37	BHLHE40	chr1:120326062-120326262	K562	blood:	n/a	n/a
38	BHLHE40	chr1:120416411-120417211	K562	blood:	n/a	n/a
39	BHLHE40	chr1:120402075-120402625	K562	blood:	n/a	n/a
40	BHLHE40	chr1:120425148-120425279	K562	blood:	n/a	n/a
41	BHLHE40	chr1:120414214-120414217	K562	blood:	n/a	n/a
42	BHLHE40	chr1:120385809-120385829	K562	blood:	n/a	n/a
43	BHLHE40	chr1:120351727-120351977	GM12878	blood:	n/a	n/a
44	BHLHE40	chr1:120413529-120413860	K562	blood:	n/a	n/a
45	BHLHE40	chr1:120462981-120463318	K562	blood:	n/a	n/a
46	BHLHE40	chr1:120338571-120338854	K562	blood:	n/a	n/a
47	BHLHE40	chr1:120386765-120387007	HepG2	liver:	n/a	n/a
48	BRCA1	chr1:120413720-120413825	HepG2	liver:	n/a	n/a
49	BRCA1	chr1:120413508-120413986	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr1:120413878-120413886	GM12878	blood:	n/a	n/a

(count:2140 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120387965-120388015	HAEpiC	amniotic membrane:	n/a
2	chr1:120324270-120324320	HNPCEpiC	eye:	n/a
3	chr1:120351373-120351423	HUVEC	blood vessel:	n/a
4	chr1:120395857-120395907	GM12892	blood:	n/a
5	chr1:120354772-120354822	HL-60	blood:	n/a
6	chr1:120387965-120388015	HAEpiC	amniotic membrane:	n/a
7	chr1:120324270-120324320	HNPCEpiC	eye:	n/a
8	chr1:120351373-120351423	HUVEC	blood vessel:	n/a
9	chr1:120395857-120395907	GM12892	blood:	n/a
10	chr1:120354772-120354822	HL-60	blood:	n/a
11	chr1:120354493-120354543	NHDF-neo	bronchial:	n/a
12	chr1:120354493-120354543	Caco-2	colon:	n/a
13	chr1:120435245-120435295	GM19239	blood:	n/a
14	chr1:120324270-120324320	GM19239	blood:	n/a
15	chr1:120457856-120457906	MCF10A-Er-Src	breast:	n/a
16	chr1:120351740-120351790	NHDF-neo	bronchial:	n/a
17	chr1:120394120-120394170	K562	blood:	n/a
18	chr1:120354772-120354822	T-47D	breast:	n/a
19	chr1:120354250-120354300	SAEC	small airway:	n/a
20	chr1:120389211-120389261	SAEC	small airway:	n/a
21	chr1:120387299-120387349	HepG2	liver:	n/a
22	chr1:120354250-120354300	NB4	blood:	n/a
23	chr1:120457856-120457906	AG04449	skin:	fetal
24	chr1:120394120-120394170	GM12891	blood:	n/a
25	chr1:120343387-120343437	HEEpiC	esophagus:	n/a
26	chr1:120440230-120440280	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:120439014-120439064	HIPEpiC	eye:	n/a
28	chr1:120387965-120388015	AG09319	gingival:	n/a
29	chr1:120439812-120439862	AG09309	skin:	n/a
30	chr1:120396167-120396217	HL-60	blood:	n/a
31	chr1:120439812-120439862	SK-N-SH	brain:	n/a
32	chr1:120439014-120439064	RPTEC	kidney:	n/a
33	chr1:120396074-120396124	HUVEC	blood vessel:	n/a
34	chr1:120394120-120394170	SK-N-MC	brain:	n/a
35	chr1:120355361-120355411	IMR90	lung:	fetal
36	chr1:120395943-120395993	AG09309	skin:	n/a
37	chr1:120395857-120395907	NH-A	brain:	n/a
38	chr1:120337793-120337843	BE2_C	brain:	n/a
39	chr1:120389211-120389261	PFSK-1	brain:	n/a
40	chr1:120438925-120438975	H1-hESC	embryonic stem cell:	embryo
41	chr1:120435245-120435295	AG10803	skin:	n/a
42	chr1:120387965-120388015	K562	blood:	n/a
43	chr1:120439014-120439064	AG09319	gingival:	n/a
44	chr1:120396167-120396217	T-47D	breast:	n/a
45	chr1:120387299-120387349	HEEpiC	esophagus:	n/a
46	chr1:120354250-120354300	HUVEC	blood vessel:	n/a
47	chr1:120354159-120354209	HRE	kidney:	n/a
48	chr1:120337793-120337843	HCT-116	colon:	n/a
49	chr1:120354772-120354822	CMK	blood:	n/a
50	chr1:120440230-120440280	HIPEpiC	eye:	n/a

(count:129 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:120329924..120336261-chr1:120336777..120341772,6	K562	blood:
2	chr1:120276233..120279143-chr1:120323755..120325548,2	K562	blood:
3	chr1:120467969..120469676-chr1:120469960..120472021,2	MCF-7	breast:
4	chr1:120229792..120231465-chr1:120324714..120327706,2	MCF-7	breast:
5	chr1:120413185..120414823-chr1:120510316..120511509,11	K562	blood:
6	chr1:120358099..120360727-chr1:144531568..144534050,2	K562	blood:
7	chr1:120341940..120344287-chr1:120345064..120347040,2	MCF-7	breast:
8	chr1:120351185..120352714-chr1:120356340..120358363,2	MCF-7	breast:
9	chr1:120418215..120420899-chr1:120436819..120439345,2	MCF-7	breast:
10	chr1:120436002..120438494-chr1:120462381..120464792,2	MCF-7	breast:
11	chr1:120402254..120403816-chr1:120407208..120410128,2	K562	blood:
12	chr1:120351330..120352202-chr1:120413267..120414049,2	MCF-7	breast:
13	chr1:120428374..120430929-chr1:144532739..144535945,3	K562	blood:
14	chr1:120333977..120336154-chr1:120357521..120360172,2	MCF-7	breast:
15	chr1:120409955..120411545-chr1:120412072..120413806,2	MCF-7	breast:
16	chr1:120402638..120409843-chr1:120411143..120414879,6	K562	blood:
17	chr1:120356024..120358010-chr1:120414554..120416804,2	MCF-7	breast:
18	chr1:120370478..120372574-chr1:120394062..120395720,2	MCF-7	breast:
19	chr1:120324473..120326821-chr1:120335135..120337895,2	K562	blood:
20	chr1:120332675..120334914-chr1:120341498..120343117,2	MCF-7	breast:
21	chr1:120396123..120397960-chr1:120398634..120401481,2	MCF-7	breast:
22	chr1:120290151..120293053-chr1:120335824..120338207,2	MCF-7	breast:
23	chr1:120461841..120464545-chr1:120468138..120469880,2	MCF-7	breast:
24	chr1:120351224..120351770-chr1:120413201..120414211,3	K562	blood:
25	chr1:120325629..120327668-chr1:120343274..120344889,2	MCF-7	breast:
26	chr1:120283662..120285685-chr1:120414247..120416692,2	MCF-7	breast:
27	chr1:120286454..120287367-chr1:120413250..120414231,6	MCF-7	breast:
28	chr1:120395990..120398388-chr1:120402021..120403587,2	MCF-7	breast:
29	chr1:120351738..120353782-chr1:120355581..120358346,2	K562	blood:
30	chr1:120336862..120340464-chr1:120344663..120347846,4	MCF-7	breast:
31	chr1:120329924..120336261-chr1:120336777..120341772,6	K562	blood:
32	chr1:120412006..120414446-chr20:39570090..39572688,2	MCF-7	breast:
33	chr1:120415380..120417252-chr1:120419705..120421927,2	K562	blood:
34	chr1:120351738..120353782-chr1:120355581..120358346,2	K562	blood:
35	chr1:120339651..120341954-chr1:120345808..120347927,2	K562	blood:
36	chr1:120341661..120344081-chr1:120348262..120351109,2	K562	blood:
37	chr1:120341661..120344081-chr1:120348262..120351109,2	K562	blood:
38	chr1:120333977..120336154-chr1:120357521..120360172,2	MCF-7	breast:
39	chr1:120336862..120340464-chr1:120344663..120347846,4	MCF-7	breast:
40	chr1:120324664..120326745-chr1:120374346..120376019,2	MCF-7	breast:
41	chr1:120411363..120413507-chr1:120488348..120490535,2	MCF-7	breast:
42	chr1:120438934..120440832-chr1:120445374..120447233,2	K562	blood:
43	chr1:120254317..120256154-chr1:120322283..120325214,2	MCF-7	breast:
44	chr1:120351585..120352102-chr7:123265949..123266449,2	MCF-7	breast:
45	chr1:120440403..120442887-chr1:120444979..120447049,2	MCF-7	breast:
46	chr1:120449760..120452245-chrX:18130620..18132924,2	MCF-7	breast:
47	chr1:120401899..120403872-chr1:120404616..120406616,2	K562	blood:
48	chr1:120409955..120411545-chr1:120412072..120413806,2	MCF-7	breast:
49	chr1:120455729..120458677-chr1:120465147..120468544,4	MCF-7	breast:
50	chr1:120315709..120317268-chr1:120336953..120338874,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHGDH-2	chr1:120389145-120389383	XLOC_000371
2	lnc-PHGDH-2	chr1:120388521-120388629	XLOC_000371
3	lnc-NOTCH2-1	chr1:120451878-120453236	ENSG00000261662.1
4	lnc-ADAM30-1	chr1:120390862-120391484	ENSG00000247433

No data

(count:12 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NOTCH2	hsa-miR-181c-5p	chr1:120454955-120454976
2	NOTCH2	hsa-miR-107	chr1:120457885-120457879
3	NOTCH2	hsa-miR-181a-5p	chr1:120454961-120454954
4	NOTCH2	hsa-miR-16-5p	chr1:120457884-120457878
5	NOTCH2	hsa-miR-1	chr1:120454297-120454318
6	NOTCH2	hsa-miR-34a-5p	chr1:120455462-120455456
7	NOTCH2	hsa-miR-326	chr1:120454916-120454935
8	NOTCH2	hsa-miR-181a-5p	chr1:120454955-120454976
9	NOTCH2	hsa-miR-181c-5p	chr1:120454961-120454954
10	NOTCH2	hsa-miR-34a-5p	chr1:120455456-120455477
11	NOTCH2	hsa-miR-107	chr1:120457879-120457900
12	NOTCH2	hsa-miR-16-5p	chr1:120457878-120457901

Variant related genes	Relation type
ADAM30	TF binding region
NBPF7	TF binding region
NOTCH2	TF binding region
ENSG00000261662	TF binding region
REG4	TF binding region
NOTCH2P1	TF binding region
PFN1P9	TF binding region
ADAM30	CpG island
NBPF7	CpG island
NOTCH2	CpG island
ENSG00000261662	CpG island
REG4	CpG island
NOTCH2P1	CpG island
PFN1P9	CpG island
ENSG00000227205	chromatin interactions
ENSG00000134193	chromatin interactions
ENSG00000226446	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000092621	chromatin interactions
ENSG00000134250	chromatin interactions
ENSG00000261662	chromatin interactions
ENSG00000134249	chromatin interactions
ZDHHC2	miRNA target sites

Extended variants
information (count: 5117 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:5117 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587774142	chr1:120323583-120323584	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs587630927	chr1:120323618-120323619	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs587716651	chr1:120323646-120323647	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374929702	chr1:120323688-120323689	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185141551	chr1:120323789-120323790	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191080813	chr1:120323797-120323798	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116708185	chr1:120323827-120323828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs587652260	chr1:120323842-120323843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs587710120	chr1:120323888-120323889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2843015	chr1:120323893-120323894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs587663046	chr1:120323918-120323919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587734747	chr1:120323939-120323940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs587609151	chr1:120324026-120324027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs58401529	chr1:120324031-120324032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139539756	chr1:120324087-120324088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs587616860	chr1:120324196-120324197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs587721692	chr1:120324217-120324218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144177811	chr1:120324270-120324271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587646012	chr1:120324295-120324296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587704937	chr1:120324296-120324297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10494231	chr1:120324319-120324320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs587636325	chr1:120324322-120324323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs587691375	chr1:120324336-120324337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115114616	chr1:120324357-120324358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373288024	chr1:120324390-120324391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368173698	chr1:120324475-120324476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs386635139	chr1:120324506-120324507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587708327	chr1:120324549-120324550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs151119412	chr1:120324553-120324554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139978328	chr1:120324581-120324582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182850043	chr1:120324600-120324601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10754421	chr1:120324615-120324616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs587668322	chr1:120324637-120324638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs587742666	chr1:120324640-120324641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373125542	chr1:120324654-120324655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149838189	chr1:120324773-120324774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs587748274	chr1:120324781-120324782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587646037	chr1:120324801-120324802	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188169604	chr1:120324904-120324905	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs145802894	chr1:120324958-120324959	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375933927	chr1:120324965-120324966	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs587696563	chr1:120324987-120324988	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2582783	chr1:120324995-120324996	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs587628481	chr1:120325010-120325011	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs587700150	chr1:120325071-120325072	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375199069	chr1:120325107-120325108	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs587707898	chr1:120325115-120325116	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs587759638	chr1:120325125-120325126	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs587654885	chr1:120325177-120325178	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs587709492	chr1:120325291-120325292	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Pancreatic cancer	17952125	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:1408 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120311800-120324800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:120311800-120325400	Weak transcription	Lung	lung
3	chr1:120314600-120324800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:120316800-120326000	Weak transcription	Esophagus	oesophagus
5	chr1:120317000-120325400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:120318400-120325200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:120318400-120328000	Weak transcription	Gastric	stomach
8	chr1:120321600-120323800	Enhancers	Fetal Intestine Small	intestine
9	chr1:120321600-120330800	Enhancers	Placenta	Placenta
10	chr1:120322000-120323600	Flanking Active TSS	Liver	Liver
11	chr1:120322000-120323800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr1:120322600-120323800	Enhancers	HSMM	muscle
13	chr1:120322800-120325200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:120322800-120325600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:120322800-120326400	Weak transcription	Colonic Mucosa	Colon
16	chr1:120323000-120323800	Enhancers	Small Intestine	intestine
17	chr1:120323000-120324600	Enhancers	Stomach Mucosa	stomach
18	chr1:120323000-120324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:120323000-120324800	Weak transcription	Fetal Intestine Large	intestine
20	chr1:120323000-120325000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:120323000-120325200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:120323000-120325600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:120323000-120326600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:120323200-120323600	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:120323200-120324000	Enhancers	HepG2	liver
26	chr1:120323200-120324800	Weak transcription	Fetal Stomach	stomach
27	chr1:120323200-120325600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:120323400-120323800	Enhancers	Fetal Kidney	kidney
29	chr1:120323400-120323800	Enhancers	Fetal Lung	lung
30	chr1:120323400-120323800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr1:120323400-120324800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:120323400-120324800	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:120323400-120325200	Weak transcription	NHEK	skin
34	chr1:120323400-120325400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:120323400-120325600	Weak transcription	Ovary	ovary
36	chr1:120323400-120325600	Weak transcription	Hela-S3	cervix
37	chr1:120323400-120325800	Weak transcription	Adipose Nuclei	Adipose
38	chr1:120323400-120326000	Weak transcription	Pancreas	Pancrea
39	chr1:120323400-120326400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:120323400-120326800	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:120323600-120325400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:120323600-120329400	Enhancers	Liver	Liver
43	chr1:120323800-120324400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:120323800-120324800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:120323800-120325000	Weak transcription	Fetal Lung	lung
46	chr1:120323800-120325200	Weak transcription	Fetal Kidney	kidney
47	chr1:120323800-120332600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:120324000-120324600	Weak transcription	HepG2	liver
49	chr1:120324400-120325400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:120324600-120325000	Weak transcription	Stomach Mucosa	stomach

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