Variant report

Variant	nsv521379
Chromosome Location	chrX:104156944-104181145
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:103810549..103811078-chrX:104166476..104167469,2	K562	blood:
2	chrX:103810214..103811503-chrX:104166703..104167470,5	MCF-7	breast:
3	chrX:103810245..103811094-chrX:104166493..104167179,2	MCF-7	breast:
4	chrX:103912878..103913822-chrX:104166476..104167615,8	MCF-7	breast:
5	chrX:104166569..104167244-chrX:104434712..104435505,3	MCF-7	breast:
6	chrX:103957380..103958036-chrX:104166499..104167065,2	MCF-7	breast:
7	chrX:104023997..104024614-chrX:104166545..104167470,2	MCF-7	breast:
8	chrX:104157818..104158550-chrX:104166893..104167424,2	MCF-7	breast:
9	chrX:104157818..104158550-chrX:104166893..104167424,2	MCF-7	breast:
10	chrX:103727175..103728137-chrX:104166468..104167448,2	MCF-7	breast:
11	chrX:104157994..104158575-chrX:104434799..104435541,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189108	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5917175	chrX:104156944-104156945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7054264	chrX:104157125-104157126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534819126	chrX:104157141-104157142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374766081	chrX:104157225-104157226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369061882	chrX:104157282-104157283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145339518	chrX:104157302-104157303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373430940	chrX:104157354-104157355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569724679	chrX:104157370-104157371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185854579	chrX:104157552-104157553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190469387	chrX:104157570-104157571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183043111	chrX:104157588-104157589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149177448	chrX:104157601-104157602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371995276	chrX:104157650-104157651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187772506	chrX:104157717-104157718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193112109	chrX:104157873-104157874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376496186	chrX:104157953-104157954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202006552	chrX:104157983-104157984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57174340	chrX:104157984-104157985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578106067	chrX:104158016-104158017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143279184	chrX:104158062-104158063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138831661	chrX:104158074-104158075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369132586	chrX:104158103-104158104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113397987	chrX:104158136-104158137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147429307	chrX:104158138-104158139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184172001	chrX:104158318-104158319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111526428	chrX:104158321-104158322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138733962	chrX:104158396-104158397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141840131	chrX:104158473-104158474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187594392	chrX:104158543-104158544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192799956	chrX:104158605-104158606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111571486	chrX:104158702-104158703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184594577	chrX:104158967-104158968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188562998	chrX:104158975-104158976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370707896	chrX:104158983-104158984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142973726	chrX:104162306-104162307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193194870	chrX:104162341-104162342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151097744	chrX:104162350-104162351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185400730	chrX:104162376-104162377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190638977	chrX:104162474-104162475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372895963	chrX:104162505-104162506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377208474	chrX:104162519-104162520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180751579	chrX:104162534-104162535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527368929	chrX:104162637-104162638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183845829	chrX:104162695-104162696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201059664	chrX:104162709-104162710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188409653	chrX:104162713-104162714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141036167	chrX:104162815-104162816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181277078	chrX:104162817-104162818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369746854	chrX:104162844-104162845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185864776	chrX:104162881-104162882	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Pancreatic cancer	17952125	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:104155200-104157200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chrX:104155400-104157800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrX:104155400-104158000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chrX:104155400-104158200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chrX:104155400-104158200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chrX:104155400-104158200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chrX:104156800-104157200	Weak transcription	Fetal Heart	heart
8	chrX:104157200-104157800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrX:104157200-104158400	Enhancers	Fetal Heart	heart
10	chrX:104157800-104158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chrX:104158000-104158600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chrX:104158200-104158400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chrX:104158200-104158600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chrX:104158200-104158600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chrX:104158200-104159000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chrX:104158800-104159000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chrX:104162200-104163200	Enhancers	Liver	Liver
18	chrX:104166000-104166200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chrX:104166200-104166800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chrX:104166200-104166800	Enhancers	Placenta	Placenta
21	chrX:104166400-104166800	Enhancers	HMEC	breast
22	chrX:104166600-104166800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chrX:104166600-104167000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chrX:104166600-104167000	Enhancers	NHEK	skin
25	chrX:104167200-104167400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chrX:104180400-104180800	Enhancers	Adipose Nuclei	Adipose

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