Variant report

Variant	nsv949460
Chromosome Location	chrX:29680441-29902917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:37940088..37941001-chrX:29680329..29680874,2	Hela-S3	cervix:
2	chrX:29880273..29882962-chrX:29889198..29890836,2	K562	blood:
3	chrX:29836886..29838838-chrX:29842038..29844841,2	K562	blood:
4	chrX:29709719..29712234-chrX:29713547..29716493,2	MCF-7	breast:
5	chrX:29709719..29712234-chrX:29713547..29716493,2	MCF-7	breast:
6	chrX:29880273..29882962-chrX:29889198..29890836,2	K562	blood:
7	chrX:29836886..29838838-chrX:29842038..29844841,2	K562	blood:

Variant related genes	Relation type
ENSG00000163874	chromatin interactions

Extended variants
information (count: 2139 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2139 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4829260	chrX:29680441-29680442	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7471641	chrX:29680580-29680581	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188845941	chrX:29680581-29680582	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192467889	chrX:29680717-29680718	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533992363	chrX:29680817-29680818	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7879517	chrX:29680927-29680928	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139515692	chrX:29680986-29680987	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150047127	chrX:29681169-29681170	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs377529367	chrX:29681178-29681179	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12856995	chrX:29681331-29681332	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs11418496	chrX:29681357-29681358	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145300640	chrX:29681520-29681521	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149218637	chrX:29681528-29681529	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553936848	chrX:29681730-29681731	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs55807010	chrX:29681742-29681743	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147880416	chrX:29681801-29681802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12156870	chrX:29682024-29682025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141580107	chrX:29682088-29682089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147030301	chrX:29682174-29682175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186587266	chrX:29682186-29682187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151075561	chrX:29682199-29682200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6628463	chrX:29682216-29682217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191374967	chrX:29682278-29682279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369079256	chrX:29682288-29682289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140985395	chrX:29682426-29682427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6630930	chrX:29682442-29682443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184736867	chrX:29682469-29682470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189600736	chrX:29682491-29682492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376267152	chrX:29682516-29682517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569100581	chrX:29682520-29682521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150141429	chrX:29682570-29682571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181604456	chrX:29682625-29682626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138573031	chrX:29682671-29682672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149328495	chrX:29682762-29682763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185144972	chrX:29682846-29682847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190399581	chrX:29683076-29683077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145599327	chrX:29683132-29683133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377326127	chrX:29683189-29683190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181877598	chrX:29683237-29683238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186522987	chrX:29683260-29683261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371569884	chrX:29683277-29683278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138109813	chrX:29683321-29683322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368796078	chrX:29683414-29683415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189731481	chrX:29683461-29683462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35389758	chrX:29683587-29683588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142404243	chrX:29683594-29683595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145937598	chrX:29683814-29683815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559389429	chrX:29683817-29683818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201647622	chrX:29683849-29683850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199959617	chrX:29683891-29683892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	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
Premature ovarian failure	20952765	CNVD
Ovarian cancer	19835627	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Thyroid cancer	19087340	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17406619	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	20613765	CNVD
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Mental retardation	20848651	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29678600-29681000	Weak transcription	NHLF	lung
2	chrX:29678800-29681000	Enhancers	HUVEC	blood vessel
3	chrX:29678800-29682200	Enhancers	Hela-S3	cervix
4	chrX:29679000-29681000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chrX:29679200-29680600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chrX:29679400-29680600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chrX:29679400-29681200	Enhancers	HMEC	breast
8	chrX:29679400-29681400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chrX:29679600-29680600	Flanking Active TSS	A549	lung
10	chrX:29679600-29681200	Enhancers	Brain Anterior Caudate	brain
11	chrX:29679600-29683000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chrX:29679800-29680800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chrX:29679800-29682000	Enhancers	Osteobl	bone
14	chrX:29680000-29680600	Flanking Active TSS	NH-A	brain
15	chrX:29680000-29681000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chrX:29680000-29681200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chrX:29680000-29681200	Enhancers	Brain Substantia Nigra	brain
18	chrX:29680200-29680600	Weak transcription	HSMM	muscle
19	chrX:29680200-29680800	Weak transcription	NHDF-Ad	bronchial
20	chrX:29680200-29681000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chrX:29680200-29681200	Enhancers	Muscle Satellite Cultured Cells	--
22	chrX:29680200-29681200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chrX:29680200-29681400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chrX:29680200-29681400	Enhancers	Colon Smooth Muscle	Colon
25	chrX:29680200-29681400	Enhancers	Rectal Smooth Muscle	rectum
26	chrX:29680200-29681400	Weak transcription	HSMMtube	muscle
27	chrX:29680400-29680600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chrX:29680400-29681000	Enhancers	NHEK	skin
29	chrX:29680400-29681200	Enhancers	Brain Cingulate Gyrus	brain
30	chrX:29680400-29681400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chrX:29680400-29682000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chrX:29680400-29682000	Weak transcription	Brain Angular Gyrus	brain
33	chrX:29680600-29681000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chrX:29680600-29681000	Enhancers	HSMM	muscle
35	chrX:29680600-29681200	Active TSS	NH-A	brain
36	chrX:29680600-29681800	Active TSS	A549	lung
37	chrX:29680600-29684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chrX:29680800-29681200	Active TSS	NHDF-Ad	bronchial
39	chrX:29680800-29681600	Enhancers	GM12878-XiMat	blood
40	chrX:29680800-29681800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chrX:29681000-29681200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chrX:29681000-29681200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chrX:29681000-29681200	Enhancers	Fetal Lung	lung
44	chrX:29681000-29681200	Active TSS	NHLF	lung
45	chrX:29681000-29681400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chrX:29681000-29681400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chrX:29681000-29681400	Active TSS	HSMM	muscle
48	chrX:29681000-29681400	Flanking Active TSS	HUVEC	blood vessel
49	chrX:29681000-29681400	Flanking Active TSS	NHEK	skin
50	chrX:29681000-29681600	Enhancers	Stomach Smooth Muscle	stomach

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