Variant report

Variant	rs16979519
Chromosome Location	chrX:79940623-79940624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:79939388..79942339-chrX:80064753..80066960,2	K562	blood:

Variant related genes	Relation type
ENSG00000165288	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11796018	0.80[CHD][hapmap]
rs12689192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs16979508	0.80[CHD][hapmap]
rs28417201	0.80[CHD][hapmap]
rs3122406	0.80[CHD][hapmap]
rs4826192	0.80[CHD][hapmap]
rs7049509	0.80[CHD][hapmap]
rs7054751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916218	chrX:79377399-80230929	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv532882	chrX:79884715-80017999	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv524776	chrX:79903169-80012807	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv533969	chrX:79915477-79989648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79922800-79949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chrX:79925600-79943000	Weak transcription	Osteobl	bone
3	chrX:79926200-79978000	Weak transcription	NH-A	brain
4	chrX:79928600-79955000	Weak transcription	Hela-S3	cervix
5	chrX:79928600-79962000	Weak transcription	Fetal Brain Female	brain
6	chrX:79928800-79954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chrX:79929000-79949600	Weak transcription	Brain Angular Gyrus	brain
8	chrX:79929800-79949400	Weak transcription	Fetal Muscle Trunk	muscle
9	chrX:79930400-79943600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chrX:79930400-79945400	Weak transcription	NHLF	lung
11	chrX:79930400-79949600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chrX:79930400-79953400	Weak transcription	Rectal Smooth Muscle	rectum
13	chrX:79930600-79943000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chrX:79930600-79949400	Weak transcription	Esophagus	oesophagus
15	chrX:79930600-79949400	Weak transcription	Fetal Intestine Small	intestine
16	chrX:79930600-79949400	Weak transcription	Thymus	Thymus
17	chrX:79930600-79949400	Weak transcription	Spleen	Spleen
18	chrX:79930600-79949800	Weak transcription	Gastric	stomach
19	chrX:79930600-79953000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chrX:79930600-79955200	Weak transcription	Brain Cingulate Gyrus	brain
21	chrX:79930600-79959800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chrX:79930800-79944600	Weak transcription	K562	blood
23	chrX:79930800-79946000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chrX:79930800-79962400	Weak transcription	Right Ventricle	heart
25	chrX:79930800-79987600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chrX:79931000-79947400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chrX:79931000-79949000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chrX:79931000-79949200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chrX:79931000-79949600	Weak transcription	Aorta	Aorta
30	chrX:79931000-79955800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chrX:79931000-79971000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chrX:79931000-79982800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chrX:79931200-79944000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chrX:79931200-79949400	Weak transcription	Lung	lung
35	chrX:79931200-79954800	Weak transcription	HMEC	breast
36	chrX:79931200-79960600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chrX:79931200-79985600	Weak transcription	A549	lung
38	chrX:79931400-79948000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chrX:79931800-79950800	Strong transcription	Liver	Liver
40	chrX:79932000-79941400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chrX:79932200-79943000	Weak transcription	Brain Germinal Matrix	brain
42	chrX:79932200-79944600	Strong transcription	Primary B cells from peripheral blood	blood
43	chrX:79932400-79941600	Weak transcription	Fetal Heart	heart
44	chrX:79932400-79947800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chrX:79932600-79943200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chrX:79932600-79949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chrX:79932600-79949600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chrX:79932800-79949400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chrX:79932800-79953400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chrX:79932800-79964200	Weak transcription	Colon Smooth Muscle	Colon

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