Variant report

Variant	nsv613270
Chromosome Location	chr9:7856992-7889991
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	CHD2	chr9:7879898-7880238	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr9:7879860-7880010	GM12868	blood:	n/a	n/a
3	CTCF	chr9:7883887-7883893	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr9:7877068-7877199	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr9:7862300-7862450	HEK293	kidney:	n/a	n/a
6	CTCF	chr9:7871972-7872040	GM13976	blood:	n/a	n/a
7	CTCF	chr9:7879720-7879870	GM12866	blood:	n/a	n/a
8	CTCF	chr9:7862338-7862395	MCF-7	breast:	n/a	n/a
9	CTCF	chr9:7880040-7880190	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr9:7883898-7883998	Kidney_OC	kidney:	n/a	n/a
11	E2F4	chr9:7871799-7871999	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr9:7887424-7887485	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr9:7879898-7880192	H1-hESC	embryonic stem cell:	n/a	n/a
14	FAM48A	chr9:7857908-7858000	GM12878	blood:	n/a	n/a
15	FOS	chr9:7879550-7879917	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr9:7879565-7879912	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr9:7879545-7879911	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr9:7879576-7879869	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr9:7872783-7873006	T-47D	breast:	n/a	n/a
20	FOXA1	chr9:7872876-7872992	T-47D	breast:	n/a	n/a
21	GATA3	chr9:7859869-7860047	SH-SY5Y	brain:	n/a	n/a
22	JUN	chr9:7870051-7870075	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr9:7879712-7879790	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr9:7880004-7880119	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAFF	chr9:7889281-7889445	HepG2	liver:	n/a	chr9:7889369-7889387
26	MAFF	chr9:7869392-7869684	HepG2	liver:	n/a	chr9:7869529-7869547
27	MAFK	chr9:7889278-7889499	HepG2	liver:	n/a	chr9:7889370-7889385 chr9:7889373-7889387 chr9:7889375-7889386 chr9:7889375-7889386 chr9:7889370-7889386 chr9:7889374-7889385
28	MAFK	chr9:7869374-7869708	HepG2	liver:	n/a	chr9:7869531-7869546 chr9:7869531-7869542
29	MAFK	chr9:7889231-7889532	HepG2	liver:	n/a	chr9:7889370-7889385 chr9:7889373-7889387 chr9:7889375-7889386 chr9:7889375-7889386 chr9:7889370-7889386 chr9:7889374-7889385
30	MAFK	chr9:7869367-7869711	HepG2	liver:	n/a	chr9:7869531-7869546 chr9:7869531-7869542
31	MAFK	chr9:7861452-7861611	HepG2	liver:	n/a	n/a
32	MAFK	chr9:7869386-7869667	IMR90	lung:	n/a	chr9:7869531-7869546 chr9:7869531-7869542
33	MAX	chr9:7886193-7886364	NB4	blood:	n/a	chr9:7886240-7886249 chr9:7886239-7886250 chr9:7886239-7886250 chr9:7886239-7886250
34	MAX	chr9:7879506-7880263	NB4	blood:	n/a	chr9:7879779-7879789
35	MXI1	chr9:7880293-7880300	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr9:7879691-7879785	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr9:7879613-7880186	NB4	blood:	n/a	chr9:7879779-7879789
38	MYC	chr9:7879669-7879870	MCF10A-Er-Src	breast:	n/a	chr9:7879779-7879789
39	NANOG	chr9:7879827-7880204	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr9:7874902-7875308	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr9:7861612-7861792	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr9:7875254-7875284	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr9:7874900-7875451	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr9:7885838-7885899	A549	lung:	n/a	n/a
45	POLR2A	chr9:7879533-7880323	HL-60	blood:	n/a	n/a
46	POLR2A	chr9:7879942-7880092	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr9:7857794-7857994	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr9:7879486-7879519	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr9:7879512-7880308	HL-60	blood:	n/a	n/a
50	RAD21	chr9:7879921-7880162	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:7856837..7858769-chr9:7859331..7861674,2	K562	blood:
2	chr9:7856837..7858769-chr9:7859331..7861674,2	K562	blood:
3	chr9:7870654..7872409-chr9:7873733..7876466,2	MCF-7	breast:
4	chr9:7870654..7872409-chr9:7873733..7876466,2	MCF-7	breast:
5	chr9:7870342..7873066-chr9:7873519..7876251,2	K562	blood:
6	chr9:7870342..7873066-chr9:7873519..7876251,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-8	chr9:7888299-7888380	NONHSAT130179

Variant related genes	Relation type
TMEM261	TF binding region

Extended variants
information (count: 1146 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1146 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7847381	chr9:7856992-7856993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539539758	chr9:7857007-7857008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142411964	chr9:7857012-7857013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146838701	chr9:7857016-7857017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543164516	chr9:7857063-7857064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555288395	chr9:7857088-7857089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572006970	chr9:7857095-7857096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573589112	chr9:7857103-7857104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377433930	chr9:7857111-7857112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570138158	chr9:7857167-7857168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7861551	chr9:7857168-7857169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139668849	chr9:7857178-7857179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560556358	chr9:7857187-7857188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76518543	chr9:7857214-7857215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16926807	chr9:7857217-7857218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555878952	chr9:7857273-7857274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192783584	chr9:7857281-7857282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117762015	chr9:7857318-7857319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531991702	chr9:7857324-7857325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550391296	chr9:7857326-7857327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2381672	chr9:7857333-7857334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182534459	chr9:7857338-7857339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189240349	chr9:7857345-7857346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193004614	chr9:7857348-7857349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146632583	chr9:7857365-7857366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184361333	chr9:7857381-7857382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557835862	chr9:7857398-7857399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562337708	chr9:7857409-7857410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188794896	chr9:7857421-7857422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140747078	chr9:7857423-7857424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555122522	chr9:7857475-7857476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573474163	chr9:7857524-7857525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572265019	chr9:7857525-7857526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77616691	chr9:7857557-7857558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72699828	chr9:7857565-7857566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572409829	chr9:7857579-7857580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191758656	chr9:7857599-7857600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184122049	chr9:7857601-7857602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560486477	chr9:7857607-7857608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531827850	chr9:7857644-7857645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189544225	chr9:7857645-7857646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572680794	chr9:7857652-7857653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562287798	chr9:7857657-7857658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547770209	chr9:7857663-7857664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181085481	chr9:7857715-7857716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35205189	chr9:7857785-7857786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566194662	chr9:7857786-7857787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532990173	chr9:7857834-7857835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577351954	chr9:7857852-7857853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10976628	chr9:7857879-7857880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7841000-7861200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:7859200-7861400	Enhancers	Fetal Brain Male	brain
3	chr9:7859400-7861200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr9:7860200-7861000	Enhancers	Fetal Thymus	thymus
5	chr9:7860200-7861800	Enhancers	Fetal Lung	lung
6	chr9:7860400-7861200	Enhancers	Fetal Brain Female	brain
7	chr9:7860600-7861600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr9:7861200-7861400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:7870800-7872800	Enhancers	Dnd41	blood
10	chr9:7871000-7874000	Enhancers	Fetal Thymus	thymus
11	chr9:7871200-7872200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr9:7871400-7872200	Enhancers	Thymus	Thymus
13	chr9:7871800-7872200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:7872200-7876600	Weak transcription	Thymus	Thymus
15	chr9:7876400-7879200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:7876600-7877000	ZNF genes & repeats	Thymus	Thymus
17	chr9:7876600-7877200	ZNF genes & repeats	Dnd41	blood
18	chr9:7877000-7879000	Weak transcription	Thymus	Thymus
19	chr9:7877200-7877600	Weak transcription	Dnd41	blood
20	chr9:7877600-7878000	Enhancers	Primary B cells from peripheral blood	blood
21	chr9:7877600-7879200	Enhancers	Dnd41	blood
22	chr9:7877800-7880000	Enhancers	Fetal Thymus	thymus
23	chr9:7878000-7878200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr9:7878000-7879600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr9:7878200-7878400	Enhancers	Primary hematopoietic stem cells	blood
26	chr9:7878200-7879400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr9:7878800-7880200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr9:7879000-7881000	Enhancers	Thymus	Thymus
29	chr9:7879200-7879400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:7879200-7880400	Flanking Active TSS	Dnd41	blood
31	chr9:7879200-7880800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:7879400-7879600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:7879400-7879800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr9:7879400-7880000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:7879400-7880000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr9:7879400-7880200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:7879400-7880200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr9:7879400-7880200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:7879400-7880400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:7879400-7880400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:7879400-7880400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr9:7879600-7880000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr9:7879600-7880200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr9:7879600-7880200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:7879600-7880400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:7879600-7880400	Enhancers	Primary B cells from peripheral blood	blood
47	chr9:7879600-7880400	Enhancers	Primary T cells from cord blood	blood
48	chr9:7879600-7880600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr9:7879600-7880800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:7879600-7880800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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