Variant report

Variant	nsv892159
Chromosome Location	chr9:6190076-6231239
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	chr9:6197394-6197552	HepG2	liver:	n/a	n/a
2	ATF2	chr9:6197314-6197660	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:6212812-6213039	K562	blood:	n/a	n/a
4	BRCA1	chr9:6218063-6218503	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr9:6215680-6215690	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr9:6218254-6218583	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr9:6217956-6218616	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr9:6212794-6213006	IMR90	lung:	n/a	chr9:6212887-6212896 chr9:6212885-6212896 chr9:6212885-6212898
9	CEBPB	chr9:6214455-6214781	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr9:6218324-6218373	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr9:6201259-6201536	IMR90	lung:	n/a	n/a
12	CEBPB	chr9:6230369-6231071	Hela-S3	cervix:	n/a	chr9:6230587-6230598 chr9:6230587-6230598
13	CEBPB	chr9:6218092-6218568	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr9:6201321-6201514	K562	blood:	n/a	n/a
15	CEBPB	chr9:6212815-6213033	A549	lung:	n/a	chr9:6212887-6212896 chr9:6212885-6212896 chr9:6212885-6212898
16	CEBPB	chr9:6192796-6192849	HepG2	liver:	n/a	chr9:6192835-6192846
17	CEBPB	chr9:6229679-6229728	HepG2	liver:	n/a	n/a
18	CEBPB	chr9:6212719-6213056	Hela-S3	cervix:	n/a	chr9:6212887-6212896 chr9:6212885-6212896 chr9:6212885-6212898
19	CEBPB	chr9:6229586-6229823	A549	lung:	n/a	n/a
20	CEBPB	chr9:6201277-6201513	A549	lung:	n/a	n/a
21	CEBPB	chr9:6201283-6201500	HepG2	liver:	n/a	n/a
22	CHD2	chr9:6230395-6230747	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr9:6218068-6218550	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr9:6197400-6197550	SK-N-SH_RA	brain:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
25	CTCF	chr9:6195080-6195230	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr9:6197391-6197572	SK-N-SH_RA	brain:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
27	CTCF	chr9:6197480-6197630	Hela-S3	cervix:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
28	CTCF	chr9:6210080-6210230	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr9:6197400-6197550	HA-sp	spinal cord:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
30	CTCF	chr9:6197440-6197590	GM12865	blood:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
31	CTCF	chr9:6195040-6195190	HMF	breast:	n/a	n/a
32	CTCF	chr9:6195120-6195330	HRE	kidney:	n/a	n/a
33	CTCF	chr9:6197382-6197626	Lung_OC	lung:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
34	CTCF	chr9:6197400-6197627	MCF-7	breast:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
35	CTCF	chr9:6197438-6197576	Medullo	brain:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
36	CTCF	chr9:6195060-6195210	GM12864	blood:	n/a	n/a
37	CTCF	chr9:6195033-6195226	MCF-7	breast:	n/a	n/a
38	CTCF	chr9:6197480-6197630	AG04450	lung:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
39	CTCF	chr9:6197460-6197610	BE2_C	brain:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
40	CTCF	chr9:6197399-6197748	MCF-7	breast:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
41	CTCF	chr9:6195020-6195170	GM12868	blood:	n/a	n/a
42	CTCF	chr9:6195094-6195207	MCF-7	breast:	n/a	n/a
43	CTCF	chr9:6197460-6197610	HFF	foreskin:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
44	CTCF	chr9:6195060-6195210	AG04450	lung:	n/a	n/a
45	CTCF	chr9:6197500-6197650	K562	blood:	n/a	chr9:6197502-6197515
46	CTCF	chr9:6197419-6197773	K562	blood:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
47	CTCF	chr9:6195020-6195170	HMEC	breast:	n/a	n/a
48	CTCF	chr9:6195091-6195148	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr9:6197480-6197630	HAc	cerebellar:	n/a	chr9:6197499-6197517 chr9:6197502-6197515
50	CTCF	chr9:6197460-6197610	NHEK	skin:	n/a	chr9:6197499-6197517 chr9:6197502-6197515

No.	Distal block	Cell Line	Cell type
1	chr9:6196840..6197620-chr9:6306018..6306519,2	MCF-7	breast:
2	chr9:6201029..6203540-chr9:6215680..6218483,2	K562	blood:
3	chr9:6194592..6195131-chr9:6305762..6306590,2	MCF-7	breast:
4	chr9:6195102..6195794-chr9:6568308..6568912,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL33-2	chr9:6197158-6197248	NONHSAT130125
2	lnc-IL33-2	chr9:6195934-6196846	NONHSAT130125

Variant related genes	Relation type
ENSG00000237274	TF binding region
IL33	TF binding region
ENSG00000237158	chromatin interactions
ENSG00000137033	chromatin interactions

Extended variants
information (count: 1606 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1606 , 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	rs538066794	chr9:6192417-6192418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149815935	chr9:6192418-6192419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368764637	chr9:6192431-6192432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145824440	chr9:6192440-6192441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367696888	chr9:6192466-6192467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534973410	chr9:6192489-6192490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75189268	chr9:6192506-6192507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577794875	chr9:6192529-6192530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554182054	chr9:6192532-6192533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78889832	chr9:6192586-6192587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543645958	chr9:6192649-6192650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148990158	chr9:6192650-6192651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564845423	chr9:6192687-6192688	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573845032	chr9:6192711-6192712	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs577032875	chr9:6192789-6192790	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs2095044	chr9:6192796-6192797	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145651228	chr9:6192802-6192803	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530172446	chr9:6192828-6192829	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548693378	chr9:6192838-6192839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560518534	chr9:6192855-6192856	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs147757942	chr9:6192868-6192869	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184421264	chr9:6192894-6192895	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200001806	chr9:6192927-6192928	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs552567301	chr9:6192932-6192933	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs376256976	chr9:6192983-6192984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571077027	chr9:6193014-6193015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538504711	chr9:6193019-6193020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2210465	chr9:6193022-6193023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568628787	chr9:6193038-6193039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535987296	chr9:6193063-6193064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554245232	chr9:6193064-6193065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572560216	chr9:6193079-6193080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534035405	chr9:6193101-6193102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62559595	chr9:6193107-6193108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558457028	chr9:6193137-6193138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189060494	chr9:6193138-6193139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372279520	chr9:6193164-6193165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528505522	chr9:6193183-6193184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577090443	chr9:6193231-6193232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544480725	chr9:6193240-6193241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562583728	chr9:6193289-6193290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34701752	chr9:6193343-6193344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57845497	chr9:6193395-6193396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541999235	chr9:6193405-6193406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560580399	chr9:6193410-6193411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527755498	chr9:6193422-6193423	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2381416	chr9:6193455-6193456	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
48	rs112902771	chr9:6193508-6193509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531951243	chr9:6193520-6193521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550443782	chr9:6193542-6193543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	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
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6192400-6197600	Weak transcription	Psoas Muscle	Psoas
2	chr9:6194400-6195200	Enhancers	Hela-S3	cervix
3	chr9:6195000-6196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:6195200-6195600	Weak transcription	Hela-S3	cervix
5	chr9:6195600-6196600	Enhancers	Hela-S3	cervix
6	chr9:6195800-6196000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:6195800-6196000	Enhancers	Lung	lung
8	chr9:6195800-6196400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:6195800-6196400	Enhancers	NHEK	skin
10	chr9:6195800-6196600	Enhancers	HMEC	breast
11	chr9:6196000-6197600	Weak transcription	Lung	lung
12	chr9:6196600-6210800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:6197400-6198000	Enhancers	GM12878-XiMat	blood
14	chr9:6197400-6198200	Enhancers	Stomach Mucosa	stomach
15	chr9:6197400-6200000	Enhancers	HUVEC	blood vessel
16	chr9:6197600-6197800	Enhancers	Right Atrium	heart
17	chr9:6197600-6198200	Enhancers	Adipose Nuclei	Adipose
18	chr9:6197600-6198200	Enhancers	Left Ventricle	heart
19	chr9:6197600-6198200	Enhancers	Pancreas	Pancrea
20	chr9:6197600-6198200	Enhancers	Psoas Muscle	Psoas
21	chr9:6197600-6198800	Enhancers	Colonic Mucosa	Colon
22	chr9:6197600-6198800	Enhancers	Lung	lung
23	chr9:6197600-6198800	Enhancers	Spleen	Spleen
24	chr9:6197600-6199000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr9:6197600-6199000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr9:6197800-6203400	Weak transcription	Right Atrium	heart
27	chr9:6198200-6198600	Weak transcription	Adipose Nuclei	Adipose
28	chr9:6198200-6199000	Weak transcription	Stomach Mucosa	stomach
29	chr9:6198200-6199800	Weak transcription	Psoas Muscle	Psoas
30	chr9:6198600-6198800	Enhancers	Adipose Nuclei	Adipose
31	chr9:6198600-6199000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr9:6198800-6199800	Weak transcription	Adipose Nuclei	Adipose
33	chr9:6198800-6200200	Weak transcription	Lung	lung
34	chr9:6199000-6199200	Enhancers	Stomach Mucosa	stomach
35	chr9:6199200-6199600	Weak transcription	Stomach Mucosa	stomach
36	chr9:6199200-6200400	Enhancers	Liver	Liver
37	chr9:6199400-6200600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr9:6199600-6200000	Enhancers	Stomach Mucosa	stomach
39	chr9:6199800-6200000	Enhancers	Psoas Muscle	Psoas
40	chr9:6199800-6200600	Enhancers	Adipose Nuclei	Adipose
41	chr9:6199800-6200800	Enhancers	Fetal Brain Male	brain
42	chr9:6200400-6200600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:6200400-6200600	Enhancers	Lung	lung
44	chr9:6210200-6211000	ZNF genes & repeats	Aorta	Aorta
45	chr9:6210800-6211200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:6211200-6212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:6212600-6213600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:6212600-6213800	Enhancers	NHEK	skin
49	chr9:6212600-6214600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:6212800-6213400	Enhancers	HMEC	breast

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