Variant report

Variant	rs2051508
Chromosome Location	chrX:153638662-153638663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:153638605-153639105	HepG2	liver:	n/a	n/a
2	CTCF	chrX:153638631-153638662	GM10266	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:153636674..153639285-chrX:153640930..153642751,3	K562	blood:
2	chrX:153637741..153639416-chrX:153743728..153745574,2	MCF-7	breast:
3	X:153635385-153648319..X:153719993-153730954	K562	blood:
4	chrX:153637971..153642457-chrX:153704943..153709013,6	MCF-7	breast:
5	chrX:153635955..153640116-chrX:153716960..153720383,9	MCF-7	breast:
6	chrX:153636168..153639473-chrX:153663428..153667737,8	MCF-7	breast:
7	chrX:153636942..153639438-chrX:154001357..154003573,2	MCF-7	breast:
8	chrX:153635709..153642538-chrX:153670680..153677148,19	MCF-7	breast:
9	chrX:153606188..153609065-chrX:153635251..153638815,4	K562	blood:
10	chrX:153636614..153641269-chrX:153685095..153689085,10	K562	blood:
11	chrX:153637597..153640470-chrX:153744372..153746665,2	K562	blood:
12	chrX:153635949..153638867-chrX:153759351..153764170,5	K562	blood:
13	X:153635385-153648319..X:154053104-154056925	K562	blood:
14	chrX:153637944..153642510-chrX:153684728..153688983,7	MCF-7	breast:
15	chrX:153607074..153609879-chrX:153638347..153640983,4	MCF-7	breast:
16	chrX:153596666..153604722-chrX:153634859..153642638,15	MCF-7	breast:
17	chrX:153548196..153550152-chrX:153638274..153640859,2	K562	blood:
18	chrX:153636968..153642703-chrX:153655950..153660514,11	MCF-7	breast:
19	chrX:153594620..153614384-chrX:153624179..153643019,157	MCF-7	breast:
20	chrX:153606188..153609125-chrX:153636132..153638815,4	K562	blood:
21	chrX:153638347..153641309-chrX:153665287..153666936,2	K562	blood:
22	chrX:153637523..153642483-chrX:153646526..153651340,10	MCF-7	breast:
23	chrX:153597566..153600681-chrX:153636229..153641525,5	K562	blood:
24	chrX:153636614..153641280-chrX:153684777..153688997,8	K562	blood:
25	chrX:153637503..153641560-chrX:153652741..153657919,6	K562	blood:
26	chrX:153636582..153642277-chrX:153772882..153776754,8	MCF-7	breast:
27	chrX:153637593..153639358-chrX:153705677..153707671,2	K562	blood:

No data

Variant related genes	Relation type
DNASE1L1	TF binding region
TAZ	TF binding region
ENSG00000264783	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000206693	Chromatin interaction
ENSG00000130826	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000203870	Chromatin interaction
ENSG00000196976	Chromatin interaction
ENSG00000197180	Chromatin interaction
ENSG00000007350	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000071859	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000102119	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1130929	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs12559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2070643	0.86[JPT][hapmap]
rs2070807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs2070819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs2070821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs2070825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs2070827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs2070829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2097214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2156911	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2239469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2283762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28602900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs4898484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4898494	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs6727	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs743547	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs743548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs743549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs762514	1.00[CEU][hapmap];0.83[GIH][hapmap];0.83[TSI][hapmap]
rs7886627	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs915941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs915942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531227	chrX:152864376-153655730	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
3	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
4	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
5	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
6	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
7	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
8	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
9	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153628200-153639600	Weak transcription	Small Intestine	intestine
2	chrX:153628400-153639400	Weak transcription	Ovary	ovary
3	chrX:153628600-153639400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chrX:153628800-153639400	Weak transcription	Fetal Lung	lung
5	chrX:153629200-153639400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chrX:153629600-153639200	Weak transcription	GM12878-XiMat	blood
7	chrX:153629800-153639000	Weak transcription	Dnd41	blood
8	chrX:153629800-153639200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chrX:153629800-153639200	Weak transcription	Fetal Kidney	kidney
10	chrX:153629800-153639400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chrX:153630000-153639200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chrX:153630000-153639400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chrX:153630000-153639400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chrX:153630000-153639400	Weak transcription	Brain Substantia Nigra	brain
15	chrX:153630000-153639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chrX:153630400-153639400	Weak transcription	Pancreas	Pancrea
17	chrX:153631200-153639200	Weak transcription	Brain Germinal Matrix	brain
18	chrX:153631200-153639400	Weak transcription	Liver	Liver
19	chrX:153636800-153638800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chrX:153637200-153639400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chrX:153637400-153639200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chrX:153637400-153639400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chrX:153637400-153639400	Weak transcription	Brain Angular Gyrus	brain
24	chrX:153637400-153639400	Weak transcription	Colon Smooth Muscle	Colon
25	chrX:153637600-153639400	Weak transcription	Brain Hippocampus Middle	brain
26	chrX:153637600-153639400	Weak transcription	Gastric	stomach
27	chrX:153637600-153639600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chrX:153637800-153639400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chrX:153638000-153638800	Enhancers	Placenta	Placenta
30	chrX:153638000-153639200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chrX:153638000-153639400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chrX:153638000-153639400	Weak transcription	Brain Anterior Caudate	brain
33	chrX:153638000-153639400	Weak transcription	Brain Cingulate Gyrus	brain
34	chrX:153638000-153639400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chrX:153638000-153639400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chrX:153638000-153639400	Weak transcription	Left Ventricle	heart
37	chrX:153638000-153639400	Weak transcription	Right Atrium	heart
38	chrX:153638000-153639600	Weak transcription	Aorta	Aorta
39	chrX:153638000-153639600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chrX:153638200-153639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chrX:153638200-153639200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chrX:153638200-153639200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chrX:153638200-153639200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chrX:153638200-153639200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chrX:153638200-153639200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chrX:153638200-153639200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chrX:153638200-153639200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chrX:153638200-153639200	Enhancers	Primary B cells from cord blood	blood
49	chrX:153638200-153639200	Weak transcription	Primary T cells from cord blood	blood
50	chrX:153638200-153639200	Enhancers	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links