Variant report

Variant	nsv7036
Chromosome Location	chrX:109484702-109529468
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:109489110..109490955-chrX:109642772..109644481,2	MCF-7	breast:
2	chrX:109519510..109521953-chrX:109523093..109526137,3	K562	blood:
3	chrX:109493054..109495474-chrX:109668665..109670740,2	K562	blood:
4	chrX:109500164..109502689-chrX:109505824..109508008,2	MCF-7	breast:
5	chrX:109509261..109512016-chrX:109557752..109560476,2	K562	blood:
6	chrX:109493449..109497246-chrX:109497514..109500530,3	K562	blood:
7	chrX:109526368..109528824-chrX:109551344..109553157,2	K562	blood:
8	chrX:109525118..109528523-chrX:109530147..109533491,4	K562	blood:
9	chrX:109490242..109492590-chrX:109492971..109495424,2	K562	blood:
10	chrX:109494287..109496789-chrX:109562104..109564475,2	MCF-7	breast:
11	chrX:109516660..109522699-chrX:109559387..109563005,5	MCF-7	breast:
12	chrX:109495909..109498551-chrX:109500238..109502457,2	K562	blood:
13	chrX:109494874..109497865-chrX:109653674..109656116,2	K562	blood:
14	chrX:109514933..109517628-chrX:109561232..109565445,3	K562	blood:
15	chrX:109495909..109498551-chrX:109500238..109502457,2	K562	blood:
16	chrX:109490242..109492590-chrX:109492971..109495424,2	K562	blood:
17	chrX:109523468..109525508-chrX:109526665..109528701,2	K562	blood:
18	chrX:109418950..109420739-chrX:109502257..109504733,2	K562	blood:
19	chrX:109528503..109530798-chrX:109656379..109658054,2	K562	blood:
20	chrX:109484235..109485966-chrX:109614166..109615684,2	MCF-7	breast:
21	chrX:109512999..109515894-chrX:109518138..109520187,2	K562	blood:
22	chrX:109521084..109525126-chrX:109560234..109564286,3	K562	blood:
23	chrX:109493449..109497246-chrX:109497514..109500530,3	K562	blood:
24	chrX:109509894..109512533-chrX:109560905..109563349,2	K562	blood:
25	chrX:109519510..109521953-chrX:109523093..109526137,3	K562	blood:
26	chrX:109524077..109526589-chrX:109651737..109654452,2	K562	blood:
27	chrX:109523695..109525653-chrX:109540508..109543502,2	K562	blood:
28	chrX:109470939..109473753-chrX:109483431..109486328,2	MCF-7	breast:
29	chrX:109486591..109488728-chrX:109558999..109562427,3	MCF-7	breast:
30	chrX:109523468..109525508-chrX:109526665..109528701,2	K562	blood:
31	chrX:109492249..109494982-chrX:109558775..109561286,2	MCF-7	breast:
32	chrX:109405968..109406593-chrX:109485695..109486234,2	MCF-7	breast:
33	chrX:109500164..109502689-chrX:109505824..109508008,2	MCF-7	breast:
34	chrX:109524667..109527624-chrX:109560059..109562598,2	K562	blood:
35	chrX:109521379..109523103-chrX:109530668..109533448,2	MCF-7	breast:
36	chrX:109512999..109515894-chrX:109518138..109520187,2	K562	blood:
37	chrX:109416328..109417284-chrX:109485501..109486194,3	MCF-7	breast:
38	chrX:109526599..109528716-chrX:109535150..109537467,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101935	chromatin interactions

Extended variants
information (count: 450 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183201029	chrX:109484734-109484735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374874747	chrX:109484830-109484831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187410700	chrX:109484850-109484851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113857327	chrX:109484867-109484868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191634806	chrX:109485002-109485003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112206217	chrX:109485011-109485012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183468020	chrX:109485053-109485054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146145157	chrX:109485126-109485127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368542817	chrX:109485169-109485170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148283496	chrX:109485233-109485234	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565573951	chrX:109485257-109485258	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188129996	chrX:109485332-109485333	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs370151038	chrX:109485411-109485412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374399586	chrX:109485450-109485451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140398217	chrX:109485523-109485524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191857416	chrX:109485658-109485659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5942909	chrX:109485665-109485666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186734953	chrX:109485796-109485797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12116272	chrX:109485827-109485828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372204535	chrX:109486006-109486007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7065764	chrX:109486099-109486100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191593984	chrX:109486135-109486136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138733446	chrX:109486181-109486182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185685704	chrX:109486295-109486296	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs190404914	chrX:109486379-109486380	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs7062603	chrX:109486457-109486458	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561114892	chrX:109486548-109486549	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs375511271	chrX:109486755-109486756	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546682536	chrX:109486773-109486774	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs193033893	chrX:109486932-109486933	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35303874	chrX:109487158-109487159	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs73540298	chrX:109487183-109487184	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189040092	chrX:109487199-109487200	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12857176	chrX:109487252-109487253	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146342861	chrX:109487352-109487353	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181128442	chrX:109487560-109487561	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138400320	chrX:109487564-109487565	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12116355	chrX:109487650-109487651	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185621406	chrX:109487704-109487705	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188139769	chrX:109487841-109487842	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs180870042	chrX:109488093-109488094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187218150	chrX:109488171-109488172	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368455402	chrX:109488196-109488197	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs192018114	chrX:109488238-109488239	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12116084	chrX:109488338-109488339	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372209527	chrX:109488569-109488570	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200703335	chrX:109488700-109488701	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571535356	chrX:109488709-109488710	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12115909	chrX:109488818-109488819	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557220672	chrX:109488844-109488845	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Multiple myeloma	17550852	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Pelizaeus-Merzbacher disease	18923514	CNVD
Pelizaeus-Merzbacher disease	22241247	CNVD
Cervical cancer	21062161	CNVD
Myxofibrosarcoma	16751306	CNVD
Pelizaeus-Merzbacher disease	22470819	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109471200-109486400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chrX:109473400-109485200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chrX:109478200-109485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chrX:109481400-109486400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chrX:109481600-109485000	Weak transcription	Stomach Mucosa	stomach
6	chrX:109481600-109486000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chrX:109481600-109487800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chrX:109481600-109489800	Weak transcription	K562	blood
9	chrX:109481800-109485600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chrX:109481800-109487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chrX:109482000-109489800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chrX:109482400-109485200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chrX:109482400-109485200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chrX:109482400-109486400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chrX:109482400-109489000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chrX:109482800-109486200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chrX:109482800-109489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chrX:109483600-109491400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chrX:109484800-109485200	Enhancers	NHEK	skin
20	chrX:109485000-109485600	Enhancers	NHDF-Ad	bronchial
21	chrX:109485000-109486000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chrX:109485000-109486400	Enhancers	Stomach Mucosa	stomach
23	chrX:109485000-109486600	Enhancers	HMEC	breast
24	chrX:109485200-109485400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chrX:109485200-109485400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chrX:109485200-109485400	Flanking Active TSS	NHEK	skin
27	chrX:109485200-109485600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chrX:109485200-109488400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chrX:109485400-109486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chrX:109485400-109488000	Enhancers	NHEK	skin
31	chrX:109485600-109486000	Weak transcription	NHDF-Ad	bronchial
32	chrX:109485600-109487600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chrX:109485600-109490200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chrX:109486000-109486600	Enhancers	NHDF-Ad	bronchial
35	chrX:109486000-109487600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chrX:109486000-109490200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chrX:109486000-109501400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chrX:109486200-109486600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chrX:109486200-109487000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chrX:109486200-109490600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chrX:109486200-109490600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chrX:109486400-109486600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chrX:109486400-109486600	Bivalent Enhancer	Fetal Lung	lung
44	chrX:109486400-109486800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chrX:109486400-109489200	Enhancers	H9 Cell Line	embryonic stem cell
46	chrX:109486400-109490400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chrX:109486800-109487800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chrX:109487000-109487400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chrX:109487400-109490400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chrX:109487600-109487800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links