Variant report

Variant	nsv879542
Chromosome Location	chr4:91185206-91287204
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	chr4:91278349-91278602	HepG2	liver:	n/a	n/a
2	BHLHE40	chr4:91236261-91236570	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:91270854-91271174	GM12878	blood:	n/a	n/a
4	BRCA1	chr4:91274904-91275061	GM12878	blood:	n/a	n/a
5	BRCA1	chr4:91239486-91239738	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr4:91238929-91239243	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr4:91238930-91239691	HCT-116	colon:	n/a	chr4:91239347-91239358
8	CBX3	chr4:91238989-91239820	HCT-116	colon:	n/a	chr4:91239347-91239358
9	CBX3	chr4:91238211-91238762	HCT-116	colon:	n/a	chr4:91238334-91238345
10	CBX3	chr4:91278288-91278689	HCT-116	colon:	n/a	n/a
11	CEBPB	chr4:91226887-91227069	H1-hESC	embryonic stem cell:	n/a	chr4:91227035-91227046
12	CEBPB	chr4:91265617-91265824	IMR90	lung:	n/a	chr4:91265689-91265700
13	CEBPB	chr4:91238409-91239788	IMR90	lung:	n/a	n/a
14	CEBPB	chr4:91226892-91227190	HepG2	liver:	n/a	chr4:91227035-91227046
15	CEBPB	chr4:91203800-91204076	Hela-S3	cervix:	n/a	chr4:91203939-91203950
16	CEBPB	chr4:91265549-91265830	HepG2	liver:	n/a	chr4:91265689-91265700
17	CEBPB	chr4:91203845-91204042	H1-hESC	embryonic stem cell:	n/a	chr4:91203939-91203950
18	CEBPB	chr4:91226884-91227188	A549	lung:	n/a	chr4:91227035-91227046
19	CEBPB	chr4:91226886-91227214	IMR90	lung:	n/a	chr4:91227035-91227046
20	CEBPB	chr4:91278353-91278605	A549	lung:	n/a	n/a
21	CEBPB	chr4:91247168-91247342	H1-hESC	embryonic stem cell:	n/a	chr4:91247181-91247192 chr4:91247179-91247192
22	CEBPB	chr4:91247140-91247311	IMR90	lung:	n/a	chr4:91247181-91247192 chr4:91247179-91247192
23	CEBPB	chr4:91286208-91286270	HepG2	liver:	n/a	n/a
24	CEBPB	chr4:91238800-91239847	HCT-116	colon:	n/a	n/a
25	CEBPB	chr4:91238812-91239947	HCT-116	colon:	n/a	n/a
26	CEBPB	chr4:91249649-91249990	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr4:91249633-91249946	IMR90	lung:	n/a	n/a
28	CEBPB	chr4:91203815-91204120	HepG2	liver:	n/a	chr4:91203939-91203950
29	CEBPB	chr4:91238825-91239739	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr4:91203839-91204076	A549	lung:	n/a	chr4:91203939-91203950
31	CEBPB	chr4:91227009-91227119	K562	blood:	n/a	chr4:91227035-91227046
32	CHD2	chr4:91238912-91239210	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr4:91278292-91278707	MCF-7	breast:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
34	CTCF	chr4:91236337-91236521	NHEK	skin:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423
35	CTCF	chr4:91236380-91236530	A549	lung:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423
36	CTCF	chr4:91214597-91214742	GM12878	blood:	n/a	n/a
37	CTCF	chr4:91214619-91214726	GM10266	blood:	n/a	n/a
38	CTCF	chr4:91236320-91236470	HUVEC	blood vessel:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423
39	CTCF	chr4:91214560-91214710	HRE	kidney:	n/a	n/a
40	CTCF	chr4:91236320-91236470	SK-N-SH_RA	brain:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423
41	CTCF	chr4:91236360-91236510	HRE	kidney:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423
42	CTCF	chr4:91236340-91236490	GM12866	blood:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423
43	CTCF	chr4:91214600-91214750	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr4:91236328-91236521	MCF-7	breast:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423
45	CTCF	chr4:91236340-91236490	NHLF	lung:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423
46	CTCF	chr4:91214660-91214810	HRE	kidney:	n/a	n/a
47	CTCF	chr4:91214600-91214750	HMEC	breast:	n/a	n/a
48	CTCF	chr4:91278360-91278510	HCFaa	heart:	n/a	chr4:91278461-91278482 chr4:91278459-91278477
49	CTCF	chr4:91236360-91236510	GM12869	blood:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423
50	CTCF	chr4:91236380-91236530	MCF-7	breast:	n/a	chr4:91236406-91236422 chr4:91236410-91236418 chr4:91236407-91236428 chr4:91236405-91236423

No.	Distal block	Cell Line	Cell type
1	chr10:15280129..15280852-chr4:91229350..91230248,2	MCF-7	breast:
2	chr4:91049244..91050799-chr4:91210980..91212924,2	MCF-7	breast:
3	chr4:91073236..91073889-chr4:91214194..91215162,2	MCF-7	breast:
4	chr4:90952233..90952750-chr4:91214459..91215033,2	MCF-7	breast:
5	chr4:91268568..91271022-chr4:91272053..91274584,2	K562	blood:
6	chr4:91184499..91186906-chr4:91187123..91189039,2	MCF-7	breast:
7	chr4:91047768..91049636-chr4:91206684..91208393,2	MCF-7	breast:
8	chr4:91047211..91049726-chr4:91221351..91224202,2	MCF-7	breast:
9	chr4:91081506..91083784-chr4:91211586..91214235,2	MCF-7	breast:
10	chr4:91047990..91050021-chr4:91202743..91205801,3	MCF-7	breast:
11	chr4:91268568..91271022-chr4:91272053..91274584,2	K562	blood:
12	chr4:91184499..91186906-chr4:91187123..91189039,2	MCF-7	breast:
13	chr4:91047797..91050906-chr4:91208827..91216551,11	MCF-7	breast:
14	chr4:91048863..91050461-chr4:91183370..91185880,2	MCF-7	breast:

Variant related genes	Relation type
CCSER1	TF binding region
RN7SKP248	TF binding region
ENSG00000184305	chromatin interactions

Extended variants
information (count: 2971 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2971 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10031810	chr4:91185206-91185207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532956740	chr4:91185233-91185234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188626742	chr4:91185254-91185255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116767940	chr4:91185318-91185319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34384074	chr4:91185366-91185367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11944958	chr4:91185368-91185369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11935964	chr4:91185372-91185373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549424369	chr4:91185386-91185387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192222355	chr4:91185395-91185396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549457877	chr4:91185451-91185452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559932833	chr4:91185542-91185543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528761635	chr4:91185544-91185545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538355058	chr4:91185545-91185546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116291572	chr4:91185595-91185596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11940793	chr4:91185705-91185706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11936121	chr4:91185720-91185721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182290915	chr4:91185725-91185726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11945094	chr4:91185756-91185757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561867365	chr4:91185768-91185769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11936096	chr4:91185819-91185820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376917611	chr4:91185839-91185840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs33922965	chr4:91185840-91185841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398083295	chr4:91185848-91185849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397707409	chr4:91185849-91185850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374319178	chr4:91186003-91186004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565893843	chr4:91186023-91186024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186638055	chr4:91186130-91186131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191846766	chr4:91186152-91186153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574788573	chr4:91186187-91186188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543811511	chr4:91186227-91186228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557408131	chr4:91186243-91186244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16996221	chr4:91186261-91186262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183814733	chr4:91186287-91186288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75319276	chr4:91186352-91186353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13143220	chr4:91186360-91186361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374508887	chr4:91186370-91186371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528727937	chr4:91186376-91186377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115278627	chr4:91186460-91186461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115000565	chr4:91186461-91186462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531130122	chr4:91186697-91186698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187458289	chr4:91186711-91186712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72877796	chr4:91186720-91186721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192835492	chr4:91186787-91186788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371843858	chr4:91186793-91186794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552295553	chr4:91186798-91186799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117371792	chr4:91186879-91186880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534768331	chr4:91186880-91186881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554827220	chr4:91186905-91186906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568328915	chr4:91186914-91186915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562398635	chr4:91186935-91186936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91182400-91187800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:91183800-91187600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:91187600-91188000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:91187600-91188000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr4:91187600-91188000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:91187600-91188000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:91187800-91188000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:91194800-91195400	Enhancers	Fetal Intestine Large	intestine
9	chr4:91194800-91195400	Enhancers	Fetal Intestine Small	intestine
10	chr4:91195400-91200000	Weak transcription	Fetal Intestine Large	intestine
11	chr4:91195400-91201400	Weak transcription	Fetal Intestine Small	intestine
12	chr4:91200000-91200200	Enhancers	Fetal Intestine Large	intestine
13	chr4:91200200-91200800	Weak transcription	Fetal Intestine Large	intestine
14	chr4:91200800-91203200	Enhancers	Fetal Intestine Large	intestine
15	chr4:91201400-91201800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:91201400-91201800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:91201400-91202200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:91201400-91202200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr4:91201400-91202400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:91201400-91203200	Enhancers	Fetal Intestine Small	intestine
21	chr4:91201600-91201800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:91201600-91202800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:91201800-91202200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:91201800-91204000	Enhancers	Fetal Brain Female	brain
25	chr4:91202200-91202600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:91202200-91203400	Enhancers	Brain Germinal Matrix	brain
27	chr4:91202200-91204000	Enhancers	Fetal Brain Male	brain
28	chr4:91202400-91203200	Enhancers	Duodenum Mucosa	Duodenum
29	chr4:91209400-91210400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:91210000-91210800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:91210400-91211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:91211800-91212000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:91212000-91212400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:91212400-91212600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:91212600-91215000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:91213200-91213400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:91214000-91214200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr4:91215000-91215200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:91215000-91215400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:91215000-91215400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:91215200-91215400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:91222000-91222200	Enhancers	Pancreas	Pancrea
43	chr4:91222200-91244000	Weak transcription	Pancreas	Pancrea
44	chr4:91226800-91227200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:91227200-91239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:91227800-91229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:91227800-91229400	Weak transcription	Fetal Intestine Large	intestine
48	chr4:91227800-91230000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:91228000-91234600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:91228200-91244000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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