Variant report

Variant	esv3411994
Chromosome Location	chrX:57316177-57319275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:57314728..57316370-chrX:57318588..57320279,2	MCF-7	breast:
2	chrX:57314728..57316370-chrX:57318588..57320279,2	MCF-7	breast:
3	chrX:57314064..57315645-chrX:57318373..57320098,2	MCF-7	breast:
4	chrX:57312436..57314636-chrX:57314680..57317965,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165591	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2499554	chrX:57316277-57316278	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183466898	chrX:57316545-57316546	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546623443	chrX:57316716-57316717	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs5914954	chrX:57316740-57316741	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs5914955	chrX:57316791-57316792	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565016261	chrX:57316926-57316927	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376378980	chrX:57316991-57316992	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188825757	chrX:57317224-57317225	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs193222083	chrX:57317305-57317306	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145776126	chrX:57317408-57317409	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2516025	chrX:57317705-57317706	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185265288	chrX:57317799-57317800	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190358203	chrX:57317897-57317898	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181557032	chrX:57317928-57317929	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369536710	chrX:57317966-57317967	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184331002	chrX:57317978-57317979	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188482604	chrX:57318125-57318126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199725941	chrX:57318237-57318238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532516058	chrX:57318268-57318269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377688633	chrX:57318332-57318333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180903720	chrX:57318368-57318369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2499555	chrX:57318491-57318492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs138297657	chrX:57318704-57318705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373070813	chrX:57318708-57318709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4030473	chrX:57318907-57318908	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370093150	chrX:57318936-57318937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143317454	chrX:57318960-57318961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374365616	chrX:57318979-57318980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373301234	chrX:57319024-57319025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367901897	chrX:57319043-57319044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185176227	chrX:57319081-57319082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192033045	chrX:57319251-57319252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	19835627	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57312800-57318000	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chrX:57313800-57316400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chrX:57314000-57317800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chrX:57314200-57321400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chrX:57314400-57319000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chrX:57314400-57319000	Weak transcription	Fetal Intestine Large	intestine
7	chrX:57314400-57319800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chrX:57314400-57321400	Weak transcription	Pancreas	Pancrea
9	chrX:57314400-57322400	Weak transcription	Duodenum Mucosa	Duodenum
10	chrX:57314600-57317600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chrX:57314600-57319000	Weak transcription	Liver	Liver
12	chrX:57314600-57320200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chrX:57314600-57321400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chrX:57314600-57328800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chrX:57314800-57318800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chrX:57315600-57316400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chrX:57315600-57316600	Active TSS	Primary T helper cells fromperipheralblood	blood
18	chrX:57315600-57316800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chrX:57315600-57320600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chrX:57315600-57321400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chrX:57315800-57316600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chrX:57316000-57316600	Active TSS	Primary T cells from cord blood	blood
23	chrX:57316000-57329200	Weak transcription	Hela-S3	cervix
24	chrX:57316400-57316600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chrX:57316400-57336800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chrX:57316600-57318600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chrX:57316600-57321200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chrX:57316600-57321200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chrX:57316600-57339400	Weak transcription	Primary T cells from cord blood	blood
30	chrX:57316800-57317000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chrX:57317000-57317800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chrX:57317600-57318000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chrX:57317800-57318600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chrX:57317800-57319400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chrX:57318000-57318600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chrX:57318600-57319600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chrX:57318600-57321600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chrX:57318800-57320200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chrX:57319000-57319600	Strong transcription	Fetal Intestine Large	intestine
40	chrX:57319000-57321200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chrX:57319000-57321400	Strong transcription	Liver	Liver

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