Variant report

Variant	esv1840920
Chromosome Location	chr1:211726975-211769893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1745)
CpG islands
(count:915)
Chromatin interactive
region (count:81)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1745 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:211752854-211753252	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:211729609-211729991	K562	blood:	n/a	n/a
3	ARID3A	chr1:211740042-211740230	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:211731398-211731943	K562	blood:	n/a	n/a
5	ARID3A	chr1:211761022-211761039	K562	blood:	n/a	n/a
6	ARID3A	chr1:211748069-211748373	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:211751183-211751451	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:211765480-211765748	K562	blood:	n/a	n/a
9	ARID3A	chr1:211751176-211751327	K562	blood:	n/a	n/a
10	ATF1	chr1:211759868-211760226	K562	blood:	n/a	n/a
11	ATF1	chr1:211729704-211730033	K562	blood:	n/a	n/a
12	ATF1	chr1:211752422-211753356	K562	blood:	n/a	n/a
13	ATF1	chr1:211763586-211763779	K562	blood:	n/a	n/a
14	ATF2	chr1:211752810-211753285	GM12878	blood:	n/a	n/a
15	ATF2	chr1:211751006-211751542	GM12878	blood:	n/a	n/a
16	ATF2	chr1:211739700-211740211	GM12878	blood:	n/a	n/a
17	ATF2	chr1:211752231-211752766	GM12878	blood:	n/a	n/a
18	ATF2	chr1:211755330-211755873	GM12878	blood:	n/a	n/a
19	ATF3	chr1:211752831-211753225	K562	blood:	n/a	n/a
20	ATF3	chr1:211750701-211751745	A549	lung:	n/a	chr1:211751215-211751224
21	ATF3	chr1:211751091-211751348	K562	blood:	n/a	chr1:211751215-211751224
22	ATF3	chr1:211752145-211752722	A549	lung:	n/a	chr1:211752642-211752652 chr1:211752711-211752720
23	BACH1	chr1:211754622-211754624	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr1:211732428-211732532	K562	blood:	n/a	n/a
25	BACH1	chr1:211731501-211731530	K562	blood:	n/a	n/a
26	BACH1	chr1:211752419-211752460	K562	blood:	n/a	n/a
27	BACH1	chr1:211729789-211729858	K562	blood:	n/a	n/a
28	BACH1	chr1:211751332-211751657	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr1:211739722-211739898	K562	blood:	n/a	n/a
30	BACH1	chr1:211752827-211753014	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr1:211740975-211741301	GM12878	blood:	n/a	n/a
32	BATF	chr1:211739709-211740124	GM12878	blood:	n/a	n/a
33	BATF	chr1:211751153-211751360	GM12878	blood:	n/a	n/a
34	BATF	chr1:211739673-211740188	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:211760484-211760761	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:211739675-211740136	GM12878	blood:	n/a	n/a
37	BCL3	chr1:211739797-211740117	GM12878	blood:	n/a	n/a
38	BCLAF1	chr1:211752744-211753311	GM12878	blood:	n/a	chr1:211752906-211752919 chr1:211753003-211753016 chr1:211753008-211753017
39	BCLAF1	chr1:211751059-211751498	GM12878	blood:	n/a	chr1:211751211-211751220
40	BCLAF1	chr1:211739673-211740287	GM12878	blood:	n/a	n/a
41	BCLAF1	chr1:211752191-211752685	GM12878	blood:	n/a	chr1:211752298-211752311 chr1:211752248-211752257 chr1:211752455-211752468
42	BCLAF1	chr1:211755386-211755796	GM12878	blood:	n/a	n/a
43	BCLAF1	chr1:211751020-211751546	GM12878	blood:	n/a	chr1:211751211-211751220
44	BHLHE40	chr1:211752489-211752588	A549	lung:	n/a	n/a
45	BHLHE40	chr1:211750870-211753535	K562	blood:	n/a	chr1:211751231-211751247 chr1:211751960-211751976 chr1:211752458-211752474 chr1:211751957-211751973 chr1:211751172-211751188
46	BHLHE40	chr1:211731220-211731848	K562	blood:	n/a	n/a
47	BHLHE40	chr1:211763494-211763866	K562	blood:	n/a	n/a
48	BHLHE40	chr1:211752320-211753462	HepG2	liver:	n/a	chr1:211752458-211752474
49	BHLHE40	chr1:211760521-211760941	GM12878	blood:	n/a	n/a
50	BHLHE40	chr1:211751039-211753381	GM12878	blood:	n/a	chr1:211751231-211751247 chr1:211751960-211751976 chr1:211752458-211752474 chr1:211751957-211751973 chr1:211751172-211751188

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:211750839-211750889	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:211751127-211751177	Jurkat	blood:	n/a
3	chr1:211753582-211753632	ovcar-3	ovarian:	n/a
4	chr1:211751907-211751957	SK-N-SH	brain:	n/a
5	chr1:211751127-211751177	RPTEC	kidney:	n/a
6	chr1:211752620-211752670	HUVEC	blood vessel:	n/a
7	chr1:211751793-211751843	AG09319	gingival:	n/a
8	chr1:211753152-211753202	GM12878	blood:	n/a
9	chr1:211752620-211752670	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:211765568-211765618	GM19239	blood:	n/a
11	chr1:211751127-211751177	ovcar-3	ovarian:	n/a
12	chr1:211753152-211753202	AoSMC	blood vessel:	n/a
13	chr1:211752895-211752945	GM06990	blood:	n/a
14	chr1:211751122-211751172	GM12878	blood:	n/a
15	chr1:211752571-211752621	NT2-D1	testis:	n/a
16	chr1:211756426-211756476	NB4	blood:	n/a
17	chr1:211752895-211752945	SK-N-MC	brain:	n/a
18	chr1:211750967-211751017	BE2_C	brain:	n/a
19	chr1:211756426-211756476	AG04450	lung:	fetal
20	chr1:211751907-211751957	AG09319	gingival:	n/a
21	chr1:211749023-211749073	Hela-S3	cervix:	n/a
22	chr1:211752620-211752670	Hela-S3	cervix:	n/a
23	chr1:211752571-211752621	Jurkat	blood:	n/a
24	chr1:211756426-211756476	RPTEC	kidney:	n/a
25	chr1:211753582-211753632	MCF-7	breast:	n/a
26	chr1:211751793-211751843	AG04449	skin:	fetal
27	chr1:211756426-211756476	MCF10A-Er-Src	breast:	n/a
28	chr1:211765568-211765618	MCF-7	breast:	n/a
29	chr1:211752511-211752561	HCPEpiC	choroid plexus:	n/a
30	chr1:211752620-211752670	Jurkat	blood:	n/a
31	chr1:211750967-211751017	HCT-116	colon:	n/a
32	chr1:211750839-211750889	GM12891	blood:	n/a
33	chr1:211751122-211751172	K562	blood:	n/a
34	chr1:211756426-211756476	SKMC	muscle:	n/a
35	chr1:211750839-211750889	LNCaP	prostate:	n/a
36	chr1:211751907-211751957	U87	brain:	n/a
37	chr1:211749023-211749073	RPTEC	kidney:	n/a
38	chr1:211751907-211751957	GM06990	blood:	n/a
39	chr1:211752620-211752670	GM06990	blood:	n/a
40	chr1:211752895-211752945	NHBE	bronchial:	n/a
41	chr1:211752571-211752621	AG04450	lung:	fetal
42	chr1:211751793-211751843	NH-A	brain:	n/a
43	chr1:211749023-211749073	BE2_C	brain:	n/a
44	chr1:211751127-211751177	GM19239	blood:	n/a
45	chr1:211751793-211751843	PrEC	prostate:	n/a
46	chr1:211750967-211751017	HEEpiC	esophagus:	n/a
47	chr1:211751793-211751843	HAEpiC	amniotic membrane:	n/a
48	chr1:211752511-211752561	NHDF-neo	bronchial:	n/a
49	chr1:211753152-211753202	ProgFib	skin:	n/a
50	chr1:211756426-211756476	Hepatocyte	liver:	n/a

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:
2	chr1:211732714..211734732-chr1:211750429..211753126,2	K562	blood:
3	chr1:211769453..211771427-chr1:211815206..211817109,2	K562	blood:
4	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
5	chr1:211752053..211752664-chr2:98262083..98262626,2	HCT-116	colon:
6	chr1:211720646..211723922-chr1:211723928..211727458,3	MCF-7	breast:
7	chr1:211731599..211734214-chr1:211751626..211754161,2	K562	blood:
8	chr1:211729557..211732599-chr1:211743450..211747456,3	K562	blood:
9	chr1:211721060..211723722-chr1:211744392..211746338,2	K562	blood:
10	chr1:211733190..211735497-chr1:211740773..211743674,2	K562	blood:
11	chr1:211431710..211433363-chr1:211744568..211747446,2	K562	blood:
12	chr1:211729733..211731359-chr1:211732779..211734390,2	K562	blood:
13	chr1:211752607..211756285-chr1:211771490..211773503,3	K562	blood:
14	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
15	chr1:211698404..211701104-chr1:211743081..211745100,2	MCF-7	breast:
16	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:
17	chr1:211738614..211743299-chr1:211744203..211747378,6	K562	blood:
18	chr1:211764016..211768731-chr1:211768736..211774092,7	K562	blood:
19	chr1:211751146..211751864-chr1:211798100..211799087,3	K562	blood:
20	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
21	chr1:211750650..211751428-chr1:211803176..211803710,2	MCF-7	breast:
22	chr1:211750781..211751639-chr1:211798078..211798633,2	MCF-7	breast:
23	chr1:211751583..211753296-chr1:211847712..211850652,2	MCF-7	breast:
24	chr1:211767890..211769411-chr1:211775688..211777230,2	MCF-7	breast:
25	chr1:211759135..211762333-chr1:211776227..211780241,4	K562	blood:
26	chr1:211432764..211434575-chr1:211756364..211758782,2	K562	blood:
27	chr1:211751822..211752607-chr7:35734035..35734698,2	Hela-S3	cervix:
28	chr1:211757578..211759628-chr1:211782776..211785565,2	K562	blood:
29	chr1:211750668..211752258-chr1:211765134..211767643,2	MCF-7	breast:
30	chr1:211758328..211760166-chr1:211768188..211770174,2	K562	blood:
31	chr1:211769278..211770974-chr1:211790049..211792905,2	K562	blood:
32	chr1:211736674..211739531-chr1:211847084..211848830,2	K562	blood:
33	chr1:211694132..211696485-chr1:211743577..211746464,2	MCF-7	breast:
34	chr1:211659802..211661927-chr1:211729517..211731998,2	K562	blood:
35	chr1:211751102..211752800-chr1:211760616..211763110,2	MCF-7	breast:
36	chr1:211760187..211762682-chr1:211831281..211833623,2	K562	blood:
37	chr1:211431188..211433363-chr1:211744568..211747070,2	K562	blood:
38	chr1:211721919..211725737-chr1:211730323..211735223,5	MCF-7	breast:
39	chr1:211758328..211760166-chr1:211768188..211770174,2	K562	blood:
40	chr1:211733190..211735497-chr1:211740773..211743674,2	K562	blood:
41	chr1:211746810..211749692-chr1:211783974..211785917,2	MCF-7	breast:
42	chr1:211769129..211771317-chr1:211772525..211775535,3	K562	blood:
43	chr1:211729733..211731359-chr1:211732779..211734390,2	K562	blood:
44	chr1:211747427..211749600-chr1:211810215..211812897,2	K562	blood:
45	chr1:211741510..211743942-chr1:211802313..211805190,2	K562	blood:
46	chr1:211750433..211752019-chr1:211835257..211837969,2	K562	blood:
47	chr1:211750788..211752377-chr1:211763497..211765558,2	MCF-7	breast:
48	chr1:211742646..211744909-chr1:211759048..211760986,2	K562	blood:
49	chr1:211752671..211753306-chrX:123093276..123093877,2	Hela-S3	cervix:
50	chr1:211692734..211695713-chr1:211744143..211747035,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAF5-11	chr1:211732267-211732541	NONHSAT009302
2	lnc-SLC30A1-1	chr1:211756357-211757067	ENSG00000261314.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC30A1	hsa-miR-193b-3p	chr1:211748500-211748521

Variant related genes	Relation type
ENSG00000261314	TF binding region
SLC30A1	TF binding region
ENSG00000261314	CpG island
SLC30A1	CpG island
ENSG00000222080	chromatin interactions
ENSG00000082512	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000228792	chromatin interactions
ENSG00000170385	chromatin interactions
ENSG00000117650	chromatin interactions
ENSG00000138074	chromatin interactions
ENSG00000150403	chromatin interactions
ENSG00000231057	chromatin interactions
ENSG00000122557	chromatin interactions
ENSG00000138085	chromatin interactions
ENSG00000150401	chromatin interactions
ENSG00000135940	chromatin interactions

Extended variants
information (count: 1610 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1610 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9430069	chr1:211726975-211726976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536513577	chr1:211726987-211726988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143374242	chr1:211727055-211727056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572535569	chr1:211727066-211727067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539839993	chr1:211727076-211727077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564680434	chr1:211727083-211727084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9430070	chr1:211727148-211727149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544399329	chr1:211727228-211727229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556563519	chr1:211727256-211727257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147169734	chr1:211727265-211727266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566612507	chr1:211727301-211727302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548536533	chr1:211727325-211727326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560459933	chr1:211727352-211727353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138715613	chr1:211727368-211727369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12041727	chr1:211727371-211727372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571720191	chr1:211727378-211727379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538732581	chr1:211727401-211727402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182301295	chr1:211727484-211727485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569641479	chr1:211727507-211727508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569388123	chr1:211727515-211727516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144039441	chr1:211727540-211727541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111743427	chr1:211727564-211727565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566815438	chr1:211727608-211727609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572608918	chr1:211727649-211727650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547287211	chr1:211727651-211727652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112466643	chr1:211727686-211727687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370285068	chr1:211727706-211727707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79210887	chr1:211727802-211727803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565665739	chr1:211727804-211727805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114387670	chr1:211727815-211727816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574572138	chr1:211727817-211727818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113285298	chr1:211727828-211727829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75276839	chr1:211727838-211727839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536024640	chr1:211727899-211727900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76370719	chr1:211727921-211727922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2884413	chr1:211727933-211727934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144824216	chr1:211727947-211727948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139518577	chr1:211727953-211727954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186048021	chr1:211727955-211727956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569333191	chr1:211728035-211728036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530273148	chr1:211728082-211728083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113018809	chr1:211728138-211728139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564657998	chr1:211728196-211728197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548335637	chr1:211728213-211728214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs701934	chr1:211728226-211728227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112982372	chr1:211728238-211728239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550243768	chr1:211728286-211728287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570386821	chr1:211728290-211728291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537824930	chr1:211728291-211728292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73073202	chr1:211728293-211728294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1265 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211724400-211728600	Weak transcription	K562	blood
2	chr1:211725400-211728000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:211726000-211727200	Enhancers	Hela-S3	cervix
4	chr1:211726800-211728000	Weak transcription	Placenta	Placenta
5	chr1:211727200-211727400	Weak transcription	Hela-S3	cervix
6	chr1:211727400-211727800	Enhancers	Hela-S3	cervix
7	chr1:211727800-211732600	Weak transcription	Hela-S3	cervix
8	chr1:211728000-211728200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:211728000-211728200	Enhancers	Placenta	Placenta
10	chr1:211728600-211729600	Enhancers	K562	blood
11	chr1:211729600-211729800	Flanking Active TSS	K562	blood
12	chr1:211729800-211730000	Enhancers	K562	blood
13	chr1:211730000-211730200	Flanking Active TSS	K562	blood
14	chr1:211730200-211732800	Enhancers	K562	blood
15	chr1:211732000-211733800	Enhancers	Fetal Intestine Small	intestine
16	chr1:211732000-211734400	Enhancers	Placenta	Placenta
17	chr1:211732200-211733800	Enhancers	Fetal Intestine Large	intestine
18	chr1:211732400-211733000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:211732400-211733200	Enhancers	HepG2	liver
20	chr1:211732600-211733400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:211732600-211733400	Enhancers	Hela-S3	cervix
22	chr1:211733200-211738400	Weak transcription	HepG2	liver
23	chr1:211733400-211739800	Weak transcription	Hela-S3	cervix
24	chr1:211733600-211733800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:211733800-211737800	Weak transcription	Fetal Intestine Small	intestine
26	chr1:211733800-211744800	Weak transcription	Fetal Intestine Large	intestine
27	chr1:211734400-211748000	Weak transcription	Placenta	Placenta
28	chr1:211736600-211736800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:211737800-211738800	Enhancers	Fetal Intestine Small	intestine
30	chr1:211738400-211738800	Enhancers	HepG2	liver
31	chr1:211738600-211738800	Active TSS	Stomach Smooth Muscle	stomach
32	chr1:211738800-211743800	Weak transcription	Fetal Intestine Small	intestine
33	chr1:211738800-211746000	Weak transcription	HepG2	liver
34	chr1:211738800-211748200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:211739400-211739600	Enhancers	GM12878-XiMat	blood
36	chr1:211739600-211740200	Flanking Active TSS	GM12878-XiMat	blood
37	chr1:211739800-211740200	Enhancers	Hela-S3	cervix
38	chr1:211739800-211740400	Enhancers	Liver	Liver
39	chr1:211740200-211741800	Enhancers	GM12878-XiMat	blood
40	chr1:211740200-211745800	Weak transcription	Hela-S3	cervix
41	chr1:211740400-211745400	Weak transcription	Liver	Liver
42	chr1:211741200-211741400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:211741200-211741400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:211741200-211741600	Enhancers	K562	blood
45	chr1:211741400-211744800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:211741400-211745200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:211741400-211747400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:211741400-211747400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:211741600-211744800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:211741600-211747400	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links