Variant report

Variant	esv3463503
Chromosome Location	chr3:121272501-121273549
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	chr3:121271397..121273219-chr3:122101468..122103033,2	K562	blood:

Variant related genes	Relation type
ENSG00000160124	chromatin interactions
ENSG00000114023	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112481667	chr3:121272517-121272518	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368043315	chr3:121272531-121272532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577755389	chr3:121272593-121272594	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs375419770	chr3:121272600-121272601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs386397769	chr3:121272616-121272617	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs10642401	chr3:121272617-121272618	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543282425	chr3:121272634-121272635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs542187512	chr3:121272652-121272653	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561960598	chr3:121272670-121272671	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530728217	chr3:121272726-121272727	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544355913	chr3:121272731-121272732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536904868	chr3:121272743-121272744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11418726	chr3:121272744-121272745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564439417	chr3:121272765-121272766	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529220722	chr3:121272784-121272785	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185723449	chr3:121272849-121272850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559394990	chr3:121272859-121272860	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528121118	chr3:121272883-121272884	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188135736	chr3:121272938-121272939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113182075	chr3:121272957-121272958	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373785761	chr3:121272971-121272972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539033774	chr3:121273115-121273116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533437259	chr3:121273128-121273129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs180856598	chr3:121273144-121273145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571287879	chr3:121273162-121273163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs150943419	chr3:121273174-121273175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs546755099	chr3:121273246-121273247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566561496	chr3:121273268-121273269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557650024	chr3:121273269-121273270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550782063	chr3:121273290-121273291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371905382	chr3:121273302-121273303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75473773	chr3:121273306-121273307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374874316	chr3:121273320-121273321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186259362	chr3:121273324-121273325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140771550	chr3:121273394-121273395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191881413	chr3:121273423-121273424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78964201	chr3:121273435-121273436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538695046	chr3:121273440-121273441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138573144	chr3:121273448-121273449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140349571	chr3:121273493-121273494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115751704	chr3:121273515-121273516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs500103	chr3:121273524-121273525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs500100	chr3:121273529-121273530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	17953491	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121265800-121280600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:121271600-121276000	Weak transcription	Rectal Mucosa Donor 31	rectum

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