Variant report

Variant	esv3417177
Chromosome Location	chr4:92360440-92385422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56708841..56709425-chr4:92369580..92370294,2	Hela-S3	cervix:
2	chr12:30949150..30949851-chr4:92369989..92370606,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 226 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554570904	chr4:92369675-92369676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs62309588	chr4:92369698-92369699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554259062	chr4:92369735-92369736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186385773	chr4:92369775-92369776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115480739	chr4:92369776-92369777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148311280	chr4:92369820-92369821	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545967193	chr4:92369852-92369853	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369636292	chr4:92369900-92369901	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149839685	chr4:92369943-92369944	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547543155	chr4:92369962-92369963	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377692605	chr4:92369963-92369964	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115620392	chr4:92370003-92370004	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559240296	chr4:92370011-92370012	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140500873	chr4:92370058-92370059	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541926442	chr4:92370104-92370105	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371583024	chr4:92370136-92370137	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558449036	chr4:92370144-92370145	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72880902	chr4:92370212-92370213	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550910711	chr4:92370265-92370266	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564431776	chr4:92370268-92370269	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113483452	chr4:92370294-92370295	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79648650	chr4:92370325-92370326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547174909	chr4:92370353-92370354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138466104	chr4:92370370-92370371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534730878	chr4:92370376-92370377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6838823	chr4:92370384-92370385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568090692	chr4:92370397-92370398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537039217	chr4:92370435-92370436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551319302	chr4:92370477-92370478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191734496	chr4:92370505-92370506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143031456	chr4:92370526-92370527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373033015	chr4:92370571-92370572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539305566	chr4:92370592-92370593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553151443	chr4:92370608-92370609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561805667	chr4:92370706-92370707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572417962	chr4:92370765-92370766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572938466	chr4:92370782-92370783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150670894	chr4:92370805-92370806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561845738	chr4:92370873-92370874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575276978	chr4:92371003-92371004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541048312	chr4:92371015-92371016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544210776	chr4:92371025-92371026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138868194	chr4:92371058-92371059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62309589	chr4:92371079-92371080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28685630	chr4:92371156-92371157	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144492666	chr4:92371163-92371164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560771528	chr4:92371210-92371211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139495091	chr4:92371212-92371213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183570849	chr4:92371248-92371249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74745986	chr4:92371265-92371266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92369800-92372000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:92370000-92370600	Enhancers	NH-A	brain
3	chr4:92370000-92370800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:92370000-92370800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:92370200-92370400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:92370200-92370600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:92370400-92371200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:92370400-92371600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:92370600-92375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:92371200-92371400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:92371400-92375000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:92372000-92375000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:92373800-92374200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:92375000-92375400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:92375000-92375400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:92375000-92375400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:92375000-92375800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:92375200-92375600	Enhancers	HUES48 Cell Line	embryonic stem cell

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