Variant report

Variant	nsv877822
Chromosome Location	chr3:163617092-163719054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:163676571..163679360-chr3:163699055..163700602,2	MCF-7	breast:
2	chr3:163497409..163497997-chr3:163668939..163669921,2	MCF-7	breast:
3	chr3:163634067..163635345-chr3:163668973..163669822,4	MCF-7	breast:
4	chr3:163674728..163675758-chr3:164903457..164904093,3	MCF-7	breast:
5	chr3:163503157..163504078-chr3:163634240..163634926,2	MCF-7	breast:
6	chr3:163689823..163692046-chr3:163703767..163706359,2	K562	blood:
7	chr3:163639118..163640834-chr3:163641183..163642713,2	MCF-7	breast:
8	chr3:163647521..163649115-chr3:163652164..163654381,2	MCF-7	breast:
9	chr3:163664276..163666199-chr3:163667456..163669439,2	MCF-7	breast:
10	chr3:163639118..163640834-chr3:163641183..163642713,2	MCF-7	breast:
11	chr3:163639924..163641654-chr3:163663861..163665823,2	MCF-7	breast:
12	chr3:163647521..163649115-chr3:163652164..163654381,2	MCF-7	breast:
13	chr1:219388883..219389633-chr3:163652052..163652630,2	MCF-7	breast:
14	chr3:163611385..163613477-chr3:163617466..163620081,2	K562	blood:
15	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:
16	chr3:163674674..163675466-chr3:164524045..164524647,3	MCF-7	breast:
17	chr3:163689823..163692046-chr3:163703767..163706359,2	K562	blood:
18	chr3:163634067..163635345-chr3:163668973..163669822,4	MCF-7	breast:
19	chr3:163639924..163641654-chr3:163663861..163665823,2	MCF-7	breast:
20	chr3:163676571..163679360-chr3:163699055..163700602,2	MCF-7	breast:
21	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:
22	chr3:163669046..163669790-chr3:164903266..164903861,2	MCF-7	breast:
23	chr3:163664276..163666199-chr3:163667456..163669439,2	MCF-7	breast:
24	chr3:163219408..163221189-chr3:163663438..163665910,2	K562	blood:

No data

Extended variants
information (count: 1812 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1812 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553934175	chr3:163622013-163622014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145563443	chr3:163622015-163622016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542687968	chr3:163622061-163622062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562503573	chr3:163622062-163622063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369315903	chr3:163622071-163622072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575903734	chr3:163622078-163622079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373911493	chr3:163622081-163622082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537157840	chr3:163622082-163622083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565406408	chr3:163622084-163622085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146778427	chr3:163622090-163622091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371658086	chr3:163622092-163622093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571726587	chr3:163622101-163622102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561080824	chr3:163622119-163622120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530129461	chr3:163622149-163622150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2759214	chr3:163622198-163622199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs78977189	chr3:163622201-163622202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140528719	chr3:163622209-163622210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2639574	chr3:163622235-163622236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571425953	chr3:163622268-163622269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150425295	chr3:163622326-163622327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189820566	chr3:163622329-163622330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138234694	chr3:163622358-163622359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536358201	chr3:163622366-163622367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577492118	chr3:163622372-163622373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182400667	chr3:163622433-163622434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544873895	chr3:163622449-163622450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186152671	chr3:163622513-163622514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531042813	chr3:163622537-163622538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565600254	chr3:163622545-163622546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572390856	chr3:163622547-163622548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76329934	chr3:163622590-163622591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13074466	chr3:163622617-163622618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188224287	chr3:163622623-163622624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530486908	chr3:163622660-163622661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73024981	chr3:163622671-163622672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550264530	chr3:163622674-163622675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180975564	chr3:163622696-163622697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7612324	chr3:163622726-163622727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552269568	chr3:163622731-163622732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371071667	chr3:163622745-163622746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185006083	chr3:163622792-163622793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549369165	chr3:163622819-163622820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534079705	chr3:163622842-163622843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2700315	chr3:163622874-163622875	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs2758360	chr3:163622875-163622876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536420531	chr3:163622919-163622920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547995663	chr3:163622956-163622957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556247240	chr3:163623009-163623010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576034881	chr3:163623085-163623086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527546055	chr3:163623090-163623091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163622000-163622200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:163622200-163623400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:163623400-163624600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:163623600-163624200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:163623800-163624400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:163623800-163624600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:163624200-163625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:163624400-163625800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:163624600-163625200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:163625200-163625400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:163625200-163628400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr3:163625800-163626600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr3:163626200-163627000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr3:163626600-163627600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr3:163627000-163631800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:163627600-163631800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:163627800-163631800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:163628200-163628400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr3:163628400-163629800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
20	chr3:163628400-163631800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:163629400-163629600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:163629600-163630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:163629800-163631000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr3:163630200-163630800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:163630400-163630800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:163630600-163630800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:163630800-163631800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:163630800-163631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:163631000-163631800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:163631800-163632000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:163631800-163632000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr3:163631800-163632200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:163631800-163632200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:163631800-163632200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:163631800-163632800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:163631800-163632800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:163631800-163633000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:163631800-163633000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
39	chr3:163632000-163632200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr3:163632000-163632400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr3:163632000-163633200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr3:163632200-163632800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:163632200-163638200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:163632400-163632800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:163632600-163632800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:163633000-163633200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:163633200-163638200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:163638200-163638400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:163638200-163642400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:163642000-163642600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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