Variant report

Variant	rs17863256
Chromosome Location	chr7:126894799-126894800
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:126894720-126894870	GM12873	blood:	n/a	n/a
2	RAD21	chr7:126891840-126895028	SK-N-SH	brain:	n/a	chr7:126894675-126894688 chr7:126893040-126893054 chr7:126892861-126892873 chr7:126894127-126894146
3	HA-E2F1	chr7:126892635-126895180	MCF-7	breast:	n/a	chr7:126893745-126893754 chr7:126893742-126893754 chr7:126894160-126894170 chr7:126893359-126893368 chr7:126893156-126893167 chr7:126893356-126893368 chr7:126893680-126893690
4	ELF1	chr7:126894795-126895147	K562	blood:	n/a	chr7:126894969-126894982 chr7:126894970-126894981

No.	Distal block	Cell Line	Cell type
1	chr7:126894392..126896260-chr7:126987799..126989472,2	K562	blood:
2	chr7:126892205..126895115-chr7:127030974..127032697,2	MCF-7	breast:
3	chr7:126884896..126891192-chr7:126891657..126895737,6	K562	blood:
4	chr7:126893732..126895403-chr7:127004899..127007535,2	K562	blood:

Variant related genes	Relation type
GRM8	TF binding region
ENSG00000179603	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10228722	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10258076	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11563399	1.00[CEU][hapmap]
rs11563675	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12706770	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12706772	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13222063	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13232203	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1361936	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17861434	1.00[CEU][hapmap]
rs17863255	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17863258	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863264	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17866154	0.88[EUR][1000 genomes]
rs17867802	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17867811	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858776	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731347	0.84[CEU][hapmap]
rs7777222	0.80[AMR][1000 genomes]
rs7797094	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs951640	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv464712	chr7:126881029-126908258	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv608380	chr7:126881029-126908258	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv819682	chr7:126890804-126895155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126894200-126894800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:126894200-126894800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
3	chr7:126894200-126896200	Weak transcription	HMEC	breast
4	chr7:126894200-126897600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:126894200-126902800	Weak transcription	Right Atrium	heart
6	chr7:126894400-126894800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:126894400-126894800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:126894400-126894800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
9	chr7:126894400-126895000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr7:126894400-126895200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:126894400-126895200	Bivalent Enhancer	Fetal Brain Female	brain
12	chr7:126894400-126895600	Bivalent Enhancer	Fetal Brain Male	brain
13	chr7:126894600-126894800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr7:126894600-126899600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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