Variant report

Variant	rs7053631
Chromosome Location	chrX:73814921-73814922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:73811615..73813140-chrX:73814881..73817415,2	MCF-7	breast:
2	chrX:73812034..73814010-chrX:73814336..73817265,3	K562	blood:
3	chrX:73813372..73815041-chrX:73832585..73834357,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12689586	1.00[CHB][hapmap]
rs16991794	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs3747436	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5981287	1.00[CHB][hapmap]
rs5981288	1.00[CHB][hapmap];0.86[YRI][hapmap]
rs5981655	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6647520	0.84[CHB][hapmap]
rs6647521	0.84[CHB][hapmap]
rs6647531	0.84[CHB][hapmap]
rs6647537	0.84[CHB][hapmap]
rs7056769	1.00[CHB][hapmap]
rs7892560	1.00[CHB][hapmap];0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv532878	chrX:73603325-74057587	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv521472	chrX:73656415-73878101	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73796800-73818600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chrX:73798400-73832400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chrX:73800000-73833000	Weak transcription	Lung	lung
4	chrX:73801400-73822400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chrX:73801600-73818000	Weak transcription	Aorta	Aorta
6	chrX:73801800-73832200	Weak transcription	NHLF	lung
7	chrX:73802600-73816400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chrX:73803000-73819200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chrX:73803400-73831400	Weak transcription	HMEC	breast
10	chrX:73803400-73833000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chrX:73804200-73820600	Strong transcription	Dnd41	blood
12	chrX:73805800-73816200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chrX:73805800-73820200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chrX:73806000-73833000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chrX:73806200-73824800	Weak transcription	Stomach Mucosa	stomach
16	chrX:73806400-73816200	Weak transcription	NHEK	skin
17	chrX:73807200-73815800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chrX:73807200-73816800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chrX:73807200-73821200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chrX:73807400-73818000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chrX:73807400-73819800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chrX:73807400-73819800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chrX:73807400-73823000	Weak transcription	Psoas Muscle	Psoas
24	chrX:73807800-73816000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chrX:73807800-73816400	Weak transcription	Ovary	ovary
26	chrX:73807800-73818200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chrX:73808200-73816400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chrX:73808400-73815400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chrX:73808600-73815600	Strong transcription	Liver	Liver
30	chrX:73808600-73816600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chrX:73808600-73818200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chrX:73808600-73819800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chrX:73808600-73822600	Strong transcription	Hela-S3	cervix
34	chrX:73809400-73816000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chrX:73809600-73815800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chrX:73810000-73815400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chrX:73810200-73833200	Weak transcription	Colonic Mucosa	Colon
38	chrX:73810600-73815600	Strong transcription	Primary B cells from peripheral blood	blood
39	chrX:73810800-73815800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chrX:73810800-73816000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chrX:73811000-73815200	Strong transcription	Fetal Intestine Large	intestine
42	chrX:73811000-73815600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chrX:73811000-73819400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chrX:73811200-73815200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chrX:73811200-73816600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chrX:73811400-73815000	Strong transcription	Fetal Muscle Leg	muscle
47	chrX:73811400-73815200	Strong transcription	Placenta	Placenta
48	chrX:73811400-73815400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chrX:73811400-73815600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chrX:73811400-73816000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links