Variant report

Variant	nsv1013512
Chromosome Location	chr4:47178547-47213133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 971 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:971 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183411787	chr4:47180018-47180019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371440600	chr4:47180019-47180020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562975559	chr4:47180046-47180047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530076557	chr4:47180095-47180096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542284896	chr4:47180206-47180207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2351300	chr4:47180213-47180214	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528016593	chr4:47180228-47180229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552480130	chr4:47180273-47180274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186661916	chr4:47180309-47180310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560690617	chr4:47180342-47180343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191110036	chr4:47180394-47180395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372975999	chr4:47180402-47180403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149681210	chr4:47180417-47180418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56025240	chr4:47180418-47180419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1442094	chr4:47180428-47180429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79921381	chr4:47180477-47180478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140218871	chr4:47180488-47180489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531707942	chr4:47180491-47180492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374024346	chr4:47180501-47180502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367991438	chr4:47180520-47180521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557791098	chr4:47180536-47180537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183124889	chr4:47180557-47180558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576141856	chr4:47180650-47180651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375805209	chr4:47180690-47180691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548262030	chr4:47180697-47180698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537252834	chr4:47180701-47180702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556687285	chr4:47180702-47180703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575034217	chr4:47180792-47180793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542223464	chr4:47180834-47180835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78062689	chr4:47180848-47180849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549940348	chr4:47180861-47180862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560568499	chr4:47180888-47180889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561764272	chr4:47180931-47180932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145262607	chr4:47181107-47181108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529964663	chr4:47181136-47181137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186875192	chr4:47181143-47181144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546447029	chr4:47181190-47181191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564627247	chr4:47181198-47181199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566337532	chr4:47181215-47181216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191234320	chr4:47181303-47181304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116819412	chr4:47181326-47181327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561442312	chr4:47181358-47181359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146513256	chr4:47181370-47181371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547108381	chr4:47181386-47181387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376359291	chr4:47181390-47181391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537671458	chr4:47181406-47181407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565644173	chr4:47181442-47181443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539067726	chr4:47181445-47181446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113086679	chr4:47181464-47181465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371116818	chr4:47181492-47181493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47180000-47180600	Enhancers	Fetal Heart	heart
2	chr4:47180000-47182600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:47180400-47180600	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:47180400-47180800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:47180400-47180800	Enhancers	Brain Substantia Nigra	brain
6	chr4:47180600-47185000	Weak transcription	Fetal Heart	heart
7	chr4:47183000-47184200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:47183400-47184000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:47183400-47184200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:47183400-47184200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:47183400-47184200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:47183600-47184200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr4:47183600-47184200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:47183600-47184200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:47185800-47186800	Enhancers	Duodenum Mucosa	Duodenum
16	chr4:47185800-47187000	Enhancers	Fetal Intestine Small	intestine
17	chr4:47185800-47187200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:47185800-47187400	Enhancers	Fetal Intestine Large	intestine
19	chr4:47186000-47190200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr4:47187000-47192200	Weak transcription	Fetal Intestine Small	intestine
21	chr4:47187200-47187600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:47187400-47192400	Weak transcription	Fetal Intestine Large	intestine
23	chr4:47187600-47188400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr4:47188400-47188600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:47188600-47189800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr4:47189000-47189600	Active TSS	Colonic Mucosa	Colon
27	chr4:47189000-47190000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:47189400-47190200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:47189800-47190200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:47190000-47196400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:47190200-47196200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:47190600-47196600	Weak transcription	Brain Anterior Caudate	brain
33	chr4:47192200-47193000	Enhancers	Fetal Intestine Small	intestine
34	chr4:47192400-47193200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:47192400-47193400	Enhancers	Fetal Intestine Large	intestine
36	chr4:47193000-47195800	Weak transcription	Fetal Intestine Small	intestine
37	chr4:47193400-47195400	Weak transcription	Fetal Intestine Large	intestine
38	chr4:47195400-47197200	Enhancers	Fetal Intestine Large	intestine
39	chr4:47195800-47197200	Enhancers	Fetal Intestine Small	intestine
40	chr4:47196200-47196600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:47196200-47196800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr4:47196200-47197000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:47196400-47197000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:47196600-47197000	Enhancers	Brain Anterior Caudate	brain
45	chr4:47196600-47197000	Enhancers	HSMM	muscle
46	chr4:47196600-47197000	Enhancers	HSMMtube	muscle
47	chr4:47196800-47197000	Enhancers	Osteobl	bone
48	chr4:47196800-47197200	Enhancers	Duodenum Mucosa	Duodenum
49	chr4:47196800-47198000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr4:47197000-47197600	Weak transcription	Osteobl	bone

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