Variant report

Variant	esv3417830
Chromosome Location	chr3:163439358-163442956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541474890	chr3:163439370-163439371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551637799	chr3:163439432-163439433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78122006	chr3:163439480-163439481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139449413	chr3:163439494-163439495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547843972	chr3:163439548-163439549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567639322	chr3:163439549-163439550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536619632	chr3:163439561-163439562	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555714028	chr3:163439579-163439580	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575567542	chr3:163439580-163439581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538091794	chr3:163439590-163439591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549772712	chr3:163439598-163439599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557659831	chr3:163439610-163439611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577702358	chr3:163439611-163439612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149671222	chr3:163439622-163439623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145505286	chr3:163439635-163439636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573319627	chr3:163439647-163439648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185047678	chr3:163439691-163439692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74363135	chr3:163439723-163439724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531907399	chr3:163439727-163439728	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1873521	chr3:163439728-163439729	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535130020	chr3:163439735-163439736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553785008	chr3:163439748-163439749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565318741	chr3:163439762-163439763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527810867	chr3:163439794-163439795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547933853	chr3:163439815-163439816	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567728050	chr3:163439818-163439819	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs989154	chr3:163439826-163439827	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369410714	chr3:163439827-163439828	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190690985	chr3:163439840-163439841	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569174377	chr3:163439842-163439843	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537734650	chr3:163439847-163439848	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182023076	chr3:163439861-163439862	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571375456	chr3:163439871-163439872	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373208912	chr3:163439872-163439873	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114289794	chr3:163439905-163439906	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553462539	chr3:163439928-163439929	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184910875	chr3:163439964-163439965	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542264728	chr3:163440005-163440006	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143550126	chr3:163440024-163440025	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146498731	chr3:163440045-163440046	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369836425	chr3:163440064-163440065	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141019349	chr3:163440072-163440073	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565542944	chr3:163440100-163440101	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577475079	chr3:163440104-163440105	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527895267	chr3:163440129-163440130	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541597917	chr3:163440154-163440155	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs989155	chr3:163440206-163440207	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115659264	chr3:163440211-163440212	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs188449308	chr3:163440212-163440213	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144834821	chr3:163440214-163440215	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163436600-163439800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:163438800-163440400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr3:163439200-163440200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr3:163439200-163440200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr3:163439200-163440200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr3:163439400-163439800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:163439400-163440000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr3:163439400-163440000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:163439400-163440200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr3:163439400-163440400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr3:163439800-163441400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr3:163440000-163440400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr3:163440000-163447000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:163440200-163440600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:163440200-163440600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr3:163440200-163440600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:163440400-163440600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:163440400-163440800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:163440600-163440800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr3:163440600-163441200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:163440600-163441400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:163440800-163441000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:163440800-163441000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:163441000-163441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:163441200-163441400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:163441200-163441600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:163441600-163446800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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