Variant report

Variant	rs6612757
Chromosome Location	chrX:57159752-57159753
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:57147871..57149663-chrX:57158200..57160464,3	MCF-7	breast:
2	chrX:57153956..57156942-chrX:57158731..57161040,2	K562	blood:

Variant related genes	Relation type
ENSG00000186787	Chromatin interaction
ENSG00000226310	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10521485	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12687268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs150099	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs204166	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2071722	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2213510	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2499549	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2499550	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2499551	0.81[YRI][hapmap]
rs2499555	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2516019	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2516020	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2516023	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs378487	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs4030473	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4129399	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4326513	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4587468	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4607761	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826346	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs538910	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914036	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs5914037	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs5914052	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914074	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914082	0.81[YRI][hapmap]
rs5914874	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5914897	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs5914962	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5960235	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5960951	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6611612	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6612746	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs697664	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs707346	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs912956	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs957721	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3391838	chrX:57144560-57160412	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv33226	chrX:57148376-57160464	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57148800-57163200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chrX:57148800-57163600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chrX:57149000-57161800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:57149200-57163400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chrX:57149400-57163200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chrX:57149400-57163200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chrX:57152200-57161800	Weak transcription	Primary B cells from peripheral blood	blood
8	chrX:57154000-57163200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chrX:57155000-57163400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chrX:57155600-57160200	Weak transcription	Fetal Stomach	stomach
11	chrX:57158000-57163200	Weak transcription	Fetal Muscle Trunk	muscle
12	chrX:57158600-57161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chrX:57159000-57173400	Weak transcription	Dnd41	blood
14	chrX:57159400-57160200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:57159400-57163400	Weak transcription	Fetal Intestine Small	intestine
16	chrX:57159600-57160000	Weak transcription	K562	blood
17	chrX:57159600-57163600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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