Variant report

Variant	nsv1016302
Chromosome Location	chr9:9355676-9549587
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	BATF	chr9:9442020-9442372	GM12878	blood:	n/a	n/a
2	BCL11A	chr9:9442015-9442337	GM12878	blood:	n/a	n/a
3	BCL11A	chr9:9442026-9442309	GM12878	blood:	n/a	n/a
4	BHLHE40	chr9:9442013-9442278	HepG2	liver:	n/a	n/a
5	CEBPB	chr9:9498158-9498453	A549	lung:	n/a	chr9:9498312-9498325 chr9:9498312-9498325 chr9:9498312-9498323 chr9:9498244-9498257 chr9:9498314-9498325
6	CEBPB	chr9:9414947-9415198	IMR90	lung:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
7	CEBPB	chr9:9498110-9498489	HepG2	liver:	n/a	chr9:9498312-9498325 chr9:9498312-9498325 chr9:9498312-9498323 chr9:9498244-9498257 chr9:9498314-9498325
8	CEBPB	chr9:9414945-9415249	HepG2	liver:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
9	CEBPB	chr9:9378391-9378685	H1-hESC	embryonic stem cell:	n/a	chr9:9378542-9378553
10	CEBPB	chr9:9412259-9412459	H1-hESC	embryonic stem cell:	n/a	chr9:9412345-9412356
11	CEBPB	chr9:9515940-9516172	HepG2	liver:	n/a	chr9:9516035-9516046
12	CEBPB	chr9:9416749-9417000	HepG2	liver:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
13	CEBPB	chr9:9498173-9498425	Hela-S3	cervix:	n/a	chr9:9498312-9498325 chr9:9498312-9498325 chr9:9498312-9498323 chr9:9498244-9498257 chr9:9498314-9498325
14	CEBPB	chr9:9479287-9479475	HepG2	liver:	n/a	chr9:9479420-9479431
15	CEBPB	chr9:9400061-9400321	HepG2	liver:	n/a	chr9:9400176-9400187 chr9:9400178-9400189
16	CEBPB	chr9:9416768-9417004	A549	lung:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
17	CEBPB	chr9:9378415-9378701	A549	lung:	n/a	chr9:9378542-9378553
18	CEBPB	chr9:9510269-9510515	HepG2	liver:	n/a	chr9:9510386-9510397
19	CEBPB	chr9:9378401-9378621	HepG2	liver:	n/a	chr9:9378542-9378553
20	CEBPB	chr9:9443446-9443672	HepG2	liver:	n/a	n/a
21	CHD2	chr9:9401705-9401870	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr9:9387900-9388050	HL-60	blood:	n/a	n/a
23	CTCF	chr9:9499700-9499850	HRPEpiC	eye:	n/a	chr9:9499748-9499769 chr9:9499754-9499770 chr9:9499753-9499771 chr9:9499758-9499766
24	CTCF	chr9:9499680-9499830	HEEpiC	esophagus:	n/a	chr9:9499748-9499769 chr9:9499754-9499770 chr9:9499753-9499771 chr9:9499758-9499766
25	CTCF	chr9:9499700-9499850	HA-sp	spinal cord:	n/a	chr9:9499748-9499769 chr9:9499754-9499770 chr9:9499753-9499771 chr9:9499758-9499766
26	CTCF	chr9:9521560-9521710	HRE	kidney:	n/a	n/a
27	CTCF	chr9:9388140-9388290	GM12868	blood:	n/a	n/a
28	CTCF	chr9:9442009-9442372	A549	lung:	n/a	n/a
29	CTCF	chr9:9499640-9499790	WERI-Rb-1	eye:	n/a	chr9:9499748-9499769 chr9:9499754-9499770 chr9:9499753-9499771 chr9:9499758-9499766
30	CTCF	chr9:9499660-9499810	SK-N-SH_RA	brain:	n/a	chr9:9499748-9499769 chr9:9499754-9499770 chr9:9499753-9499771 chr9:9499758-9499766
31	CTCF	chr9:9467281-9467360	GM13977	blood:	n/a	n/a
32	CTCF	chr9:9388160-9388310	GM12872	blood:	n/a	n/a
33	CTCF	chr9:9499660-9499810	WERI-Rb-1	eye:	n/a	chr9:9499748-9499769 chr9:9499754-9499770 chr9:9499753-9499771 chr9:9499758-9499766
34	CTCF	chr9:9378420-9378570	GM06990	blood:	n/a	n/a
35	CTCF	chr9:9372011-9372062	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr9:9387840-9387990	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr9:9442164-9442267	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr9:9387720-9387870	GM12872	blood:	n/a	n/a
39	CTCF	chr9:9499780-9499930	HAc	cerebellar:	n/a	n/a
40	CTCF	chr9:9391521-9391538	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr9:9458920-9459070	GM12864	blood:	n/a	n/a
42	CTCF	chr9:9387860-9388010	GM06990	blood:	n/a	n/a
43	CTCF	chr9:9499618-9499818	GM12878	blood:	n/a	chr9:9499758-9499766 chr9:9499748-9499769 chr9:9499754-9499770 chr9:9499753-9499771
44	CTCF	chr9:9499720-9499870	NB4	blood:	n/a	chr9:9499748-9499769 chr9:9499754-9499770 chr9:9499753-9499771 chr9:9499758-9499766
45	CTCF	chr9:9387884-9387982	Medullo	brain:	n/a	n/a
46	CTCF	chr9:9387840-9387990	GM12875	blood:	n/a	n/a
47	CTCF	chr9:9499680-9499848	HUVEC	blood vessel:	n/a	chr9:9499748-9499769 chr9:9499754-9499770 chr9:9499753-9499771 chr9:9499758-9499766
48	CTCF	chr9:9387880-9388030	HEK293	kidney:	n/a	n/a
49	CTCF	chr9:9387860-9388010	GM12872	blood:	n/a	n/a
50	CTCF	chr9:9521598-9521634	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
2	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
3	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:
4	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:

Variant related genes	Relation type
ENSG00000221708	TF binding region
RN7SL5P	TF binding region

Extended variants
information (count: 4559 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:4559 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10977705	chr9:9384826-9384827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10977706	chr9:9384843-9384844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10977707	chr9:9384848-9384849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564730195	chr9:9384865-9384866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114404221	chr9:9384881-9384882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10977708	chr9:9384933-9384934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10816106	chr9:9384954-9384955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530769804	chr9:9384971-9384972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553117923	chr9:9384974-9384975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10816107	chr9:9384983-9384984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115312941	chr9:9385002-9385003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376221691	chr9:9385014-9385015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553743991	chr9:9385024-9385025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16929237	chr9:9385077-9385078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs188437825	chr9:9385087-9385088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62532899	chr9:9385107-9385108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562342006	chr9:9385113-9385114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192382649	chr9:9385146-9385147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574169011	chr9:9385215-9385216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541100119	chr9:9385232-9385233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559426681	chr9:9385237-9385238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573588488	chr9:9385249-9385250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551399797	chr9:9385255-9385256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150558761	chr9:9385328-9385329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183242610	chr9:9385350-9385351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10816108	chr9:9385356-9385357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567419929	chr9:9385360-9385361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186489641	chr9:9385366-9385367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546670674	chr9:9385381-9385382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1023217	chr9:9385401-9385402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372554593	chr9:9385418-9385419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527452881	chr9:9385420-9385421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191250187	chr9:9385423-9385424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142140785	chr9:9385437-9385438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537718935	chr9:9385486-9385487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555810884	chr9:9385488-9385489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184541086	chr9:9385489-9385490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564752295	chr9:9385490-9385491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10816109	chr9:9385507-9385508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs151197548	chr9:9385522-9385523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561014557	chr9:9385536-9385537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10816110	chr9:9385560-9385561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563732723	chr9:9385583-9385584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140339403	chr9:9385604-9385605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150218121	chr9:9385610-9385611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561027318	chr9:9385626-9385627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10977709	chr9:9385640-9385641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10977710	chr9:9385651-9385652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188179840	chr9:9385656-9385657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532279664	chr9:9385681-9385682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	21215367	CNVD
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9384800-9385600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:9385200-9385600	Enhancers	Stomach Mucosa	stomach
3	chr9:9385400-9385800	Enhancers	Aorta	Aorta
4	chr9:9385600-9390800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:9386800-9387200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:9387600-9387800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:9387800-9389600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:9389600-9390000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:9390000-9390800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:9390800-9391000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:9390800-9391000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:9391000-9391400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:9391000-9391600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:9391400-9391800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr9:9391600-9392200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:9392600-9393200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr9:9396400-9397200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:9400200-9400800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:9400200-9401000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:9400600-9401600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:9400800-9405800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr9:9401000-9406200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:9401800-9402600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:9405000-9407000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:9405400-9407000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr9:9405600-9405800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:9405800-9406200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:9405800-9406400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:9405800-9406600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr9:9405800-9406800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:9406200-9406600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:9406200-9406600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:9406200-9407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:9406800-9407000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:9407000-9407200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr9:9407000-9407800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr9:9407000-9408400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:9408200-9409000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr9:9408400-9411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:9409000-9409400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:9409400-9410800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr9:9410400-9411800	Enhancers	Brain Hippocampus Middle	brain
43	chr9:9410600-9411000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr9:9410800-9411200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr9:9411200-9411800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr9:9411400-9412000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:9411400-9412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:9411800-9412600	Enhancers	Fetal Brain Female	brain
49	chr9:9411800-9413800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr9:9412000-9412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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