Variant report

Variant	esv3429353
Chromosome Location	chr1:120634589-120690803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:120688393-120688593	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:120688541-120688741	K562	blood:	n/a	n/a
3	ATF1	chr1:120688395-120688588	K562	blood:	n/a	n/a
4	BATF	chr1:120664789-120665384	GM12878	blood:	n/a	n/a
5	BATF	chr1:120659829-120660651	GM12878	blood:	n/a	n/a
6	BATF	chr1:120666326-120666799	GM12878	blood:	n/a	n/a
7	BATF	chr1:120665653-120665859	GM12878	blood:	n/a	chr1:120665799-120665807
8	BATF	chr1:120686713-120687012	GM12878	blood:	n/a	n/a
9	BATF	chr1:120647892-120648169	GM12878	blood:	n/a	n/a
10	BATF	chr1:120666351-120666651	GM12878	blood:	n/a	n/a
11	BATF	chr1:120664375-120665407	GM12878	blood:	n/a	n/a
12	BATF	chr1:120685180-120685832	GM12878	blood:	n/a	n/a
13	BATF	chr1:120685303-120685789	GM12878	blood:	n/a	n/a
14	BATF	chr1:120664423-120664787	GM12878	blood:	n/a	n/a
15	BATF	chr1:120659836-120660635	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:120685242-120685825	GM12878	blood:	n/a	chr1:120685742-120685751
17	BCL11A	chr1:120685322-120685786	GM12878	blood:	n/a	chr1:120685742-120685751
18	BCL11A	chr1:120664455-120665094	GM12878	blood:	n/a	n/a
19	BCL11A	chr1:120660435-120660597	GM12878	blood:	n/a	n/a
20	BCL11A	chr1:120659920-120660385	GM12878	blood:	n/a	chr1:120660239-120660248
21	BCL11A	chr1:120659797-120660633	GM12878	blood:	n/a	chr1:120660239-120660248
22	BCL11A	chr1:120666303-120666781	GM12878	blood:	n/a	n/a
23	BCL11A	chr1:120665116-120665397	GM12878	blood:	n/a	n/a
24	BCL11A	chr1:120666411-120666653	GM12878	blood:	n/a	n/a
25	BCL11A	chr1:120664393-120664764	GM12878	blood:	n/a	n/a
26	BCL11A	chr1:120674480-120674736	GM12878	blood:	n/a	n/a
27	BCL11A	chr1:120664779-120665397	GM12878	blood:	n/a	n/a
28	BCLAF1	chr1:120685469-120685698	GM12878	blood:	n/a	n/a
29	BCLAF1	chr1:120685430-120685722	GM12878	blood:	n/a	n/a
30	BHLHE40	chr1:120685445-120685700	GM12878	blood:	n/a	n/a
31	BHLHE40	chr1:120688462-120688582	GM12878	blood:	n/a	n/a
32	BHLHE40	chr1:120660109-120660288	GM12878	blood:	n/a	n/a
33	BRCA1	chr1:120688569-120688572	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:120645835-120646046	K562	blood:	n/a	chr1:120645892-120645903 chr1:120645893-120645904
35	CEBPB	chr1:120645816-120646057	HepG2	liver:	n/a	chr1:120645892-120645903 chr1:120645893-120645904
36	CEBPB	chr1:120688569-120688681	K562	blood:	n/a	n/a
37	CEBPB	chr1:120645819-120646050	A549	lung:	n/a	chr1:120645892-120645903 chr1:120645893-120645904
38	CEBPB	chr1:120645848-120646048	Hela-S3	cervix:	n/a	chr1:120645892-120645903 chr1:120645893-120645904
39	CEBPB	chr1:120688348-120688764	K562	blood:	n/a	n/a
40	CEBPB	chr1:120645830-120646053	IMR90	lung:	n/a	chr1:120645892-120645903 chr1:120645893-120645904
41	CEBPB	chr1:120687301-120687524	K562	blood:	n/a	n/a
42	CEBPB	chr1:120660027-120660417	GM12878	blood:	n/a	n/a
43	CEBPB	chr1:120687234-120687504	K562	blood:	n/a	n/a
44	CEBPB	chr1:120688545-120688743	A549	lung:	n/a	n/a
45	CEBPB	chr1:120688394-120688747	Hela-S3	cervix:	n/a	n/a
46	CHD1	chr1:120688462-120688765	IMR90	lung:	n/a	n/a
47	CHD2	chr1:120685467-120685665	GM12878	blood:	n/a	n/a
48	CTCF	chr1:120688520-120688670	SAEC	small airway:	n/a	chr1:120688539-120688560 chr1:120688546-120688559 chr1:120688544-120688562
49	CTCF	chr1:120686056-120686219	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:120686079-120686200	GM19239	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120428266..120429110-chr1:120688084..120688752,2	MCF-7	breast:
2	chr1:120413136..120413983-chr1:120688071..120688676,2	MCF-7	breast:
3	chr1:120688084..120688694-chr1:145126764..145127269,2	MCF-7	breast:
4	chr1:120490968..120491810-chr1:120688066..120688661,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM72B-4	chr1:120637415-120638073	XLOC_000373
2	lnc-NOTCH2-3	chr1:120637309-120637563	expReg_chr1_13425_-

Variant related genes	Relation type
RNU6-465P	TF binding region
ENSG00000226446	chromatin interactions

Extended variants
information (count: 1662 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1662 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587594995	chr1:120634606-120634607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587692870	chr1:120634618-120634619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587748034	chr1:120634689-120634690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587625857	chr1:120634716-120634717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587661808	chr1:120634749-120634750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587747800	chr1:120634757-120634758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2793880	chr1:120634777-120634778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146094891	chr1:120634789-120634790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587702255	chr1:120634830-120634831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373539620	chr1:120634842-120634843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2793881	chr1:120634847-120634848	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs57262553	chr1:120634848-120634849	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs61787507	chr1:120634853-120634854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374216050	chr1:120634882-120634883	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371183869	chr1:120634925-120634926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs587687852	chr1:120635111-120635112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587762762	chr1:120635116-120635117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145585842	chr1:120635123-120635124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149691141	chr1:120635147-120635148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377701781	chr1:120635148-120635149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370539445	chr1:120635172-120635173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202039621	chr1:120635214-120635215	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs367892875	chr1:120635240-120635241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs587652404	chr1:120635259-120635260	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs587681148	chr1:120635268-120635269	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs587763357	chr1:120635352-120635353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs587660131	chr1:120635381-120635382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs587737901	chr1:120635388-120635389	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs587594522	chr1:120635396-120635397	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79339345	chr1:120635448-120635449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587668788	chr1:120635452-120635453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587733964	chr1:120635458-120635459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11487680	chr1:120635463-120635464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587606857	chr1:120635475-120635476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61787508	chr1:120635500-120635501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587668607	chr1:120635530-120635531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587742607	chr1:120635560-120635561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148915884	chr1:120635619-120635620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587600825	chr1:120635633-120635634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587675761	chr1:120635701-120635702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587736591	chr1:120635739-120635740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587632505	chr1:120635749-120635750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200257788	chr1:120635756-120635757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201141341	chr1:120635791-120635792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587697769	chr1:120635881-120635882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587729152	chr1:120635884-120635885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587622815	chr1:120635912-120635913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2793888	chr1:120635947-120635948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199743827	chr1:120635999-120636000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587684398	chr1:120636016-120636017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Aetanephric adenomas	20802469	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120631200-120642200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:120633400-120636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:120633800-120634800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:120633800-120634800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:120634400-120636600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:120634400-120636800	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:120634400-120638000	Enhancers	Primary B cells from cord blood	blood
8	chr1:120634800-120635000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:120634800-120635200	Enhancers	Liver	Liver
10	chr1:120634800-120635400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:120635000-120635200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:120635200-120635400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:120635400-120636000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:120635400-120636000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:120636000-120636400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:120636000-120636600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:120636400-120636600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:120636400-120636600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:120636600-120639000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:120636600-120640400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:120636800-120638400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:120638000-120638800	Weak transcription	Primary B cells from cord blood	blood
23	chr1:120638400-120641200	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:120638800-120640800	Enhancers	Primary B cells from cord blood	blood
25	chr1:120639000-120639200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:120639200-120639800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:120639800-120642000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:120640400-120640600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:120640600-120641000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:120640800-120641400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:120641000-120641200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:120641200-120641600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr1:120641200-120641600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:120641200-120643600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:120641200-120643600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr1:120641400-120641600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:120641400-120641800	Enhancers	Primary T cells from cord blood	blood
38	chr1:120641400-120643400	Active TSS	Primary B cells from cord blood	blood
39	chr1:120641400-120643600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:120641400-120643600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:120641600-120642200	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:120641600-120643000	Active TSS	Primary B cells from peripheral blood	blood
43	chr1:120641600-120643200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:120641800-120642200	Weak transcription	Primary T cells from cord blood	blood
45	chr1:120642000-120642200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:120642000-120642400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr1:120642000-120642600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr1:120642000-120643400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:120642200-120642400	Enhancers	Primary T cells from cord blood	blood
50	chr1:120642200-120642400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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