Variant report

Variant	nsv594847
Chromosome Location	chr4:92189590-92244300
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	chr4:92228930..92230474-chr4:92239556..92242007,2	K562	blood:
2	chr4:92228930..92230474-chr4:92239556..92242007,2	K562	blood:

Extended variants
information (count: 643 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7694618	chr4:92189590-92189591	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531808664	chr4:92189700-92189701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530145929	chr4:92189705-92189706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140152582	chr4:92189708-92189709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570411009	chr4:92189728-92189729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539068646	chr4:92189732-92189733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552517715	chr4:92189746-92189747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373006423	chr4:92189776-92189777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566116420	chr4:92189790-92189791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182689076	chr4:92189833-92189834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555368296	chr4:92189844-92189845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186358845	chr4:92189857-92189858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544034410	chr4:92189895-92189896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548629701	chr4:92189896-92189897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369681990	chr4:92189935-92189936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558233001	chr4:92189998-92189999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191259393	chr4:92190026-92190027	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570177450	chr4:92190054-92190055	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540649181	chr4:92190057-92190058	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572841201	chr4:92190075-92190076	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13141791	chr4:92190080-92190081	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13142137	chr4:92190081-92190082	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183024891	chr4:92190154-92190155	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543389937	chr4:92190209-92190210	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563032347	chr4:92190245-92190246	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531943613	chr4:92190250-92190251	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558508095	chr4:92190292-92190293	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551635839	chr4:92190319-92190320	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112189191	chr4:92190360-92190361	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199536589	chr4:92190369-92190370	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570541836	chr4:92190372-92190373	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143752467	chr4:92190428-92190429	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529650637	chr4:92190437-92190438	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546265761	chr4:92190443-92190444	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187352505	chr4:92190469-92190470	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535071621	chr4:92190510-92190511	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555642273	chr4:92190511-92190512	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201813982	chr4:92190555-92190556	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538069205	chr4:92190578-92190579	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577093562	chr4:92190608-92190609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546145525	chr4:92190646-92190647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570803291	chr4:92190724-92190725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544394547	chr4:92190764-92190765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562786856	chr4:92190790-92190791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72877043	chr4:92190793-92190794	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs72877045	chr4:92190833-92190834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs151171689	chr4:92190866-92190867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542616010	chr4:92190905-92190906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563200135	chr4:92190927-92190928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531877260	chr4:92190933-92190934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92188000-92190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:92188200-92189600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr4:92188200-92190000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:92188600-92189600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:92188600-92190000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:92188600-92190800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:92188600-92191000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:92188800-92189600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:92189000-92190400	Enhancers	Stomach Mucosa	stomach
10	chr4:92189000-92190600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:92189200-92190200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:92189200-92190200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:92189200-92190400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:92189600-92190000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:92189600-92190600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:92190000-92190200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:92190000-92190400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr4:92190000-92190400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr4:92190000-92190400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:92190200-92190600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:92190200-92190600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:92190200-92190600	Enhancers	Fetal Intestine Large	intestine
23	chr4:92190200-92191000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr4:92190400-92190800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:92190400-92192000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:92190600-92191000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:92190600-92191200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:92190800-92191000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:92190800-92191200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:92191000-92191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:92191000-92191800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:92191200-92192000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:92191400-92192000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:92201200-92201600	Enhancers	Left Ventricle	heart
35	chr4:92201200-92201800	Enhancers	Colonic Mucosa	Colon
36	chr4:92201400-92201800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr4:92201400-92202000	Enhancers	Right Ventricle	heart
38	chr4:92201400-92202200	Enhancers	Pancreas	Pancrea
39	chr4:92201600-92202200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:92201800-92204400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:92202200-92202400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:92202600-92205000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:92203400-92203800	Enhancers	Stomach Mucosa	stomach
44	chr4:92204400-92205800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr4:92204800-92205800	Enhancers	Fetal Intestine Large	intestine
46	chr4:92205000-92206000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:92205600-92206000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:92206000-92210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:92206600-92207200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:92206800-92207000	Enhancers	H1 Cell Line	embryonic stem cell

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