Variant report

Variant	rs1647224
Chromosome Location	chr7:6412608-6412609
allele	G/T
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	ZEB1	chr7:6412482-6412741	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:6412061-6412942	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6410336..6412791-chr7:6523325..6524855,2	MCF-7	breast:
2	chr7:6412561..6415167-chr8:145131174..145134036,2	MCF-7	breast:
3	chr7:6412517..6417079-chr7:6439604..6446019,8	MCF-7	breast:

Variant related genes	Relation type
RAC1	TF binding region
ENSG00000178896	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2272154	0.87[CHB][hapmap]
rs2303364	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs35190087	0.80[ASN][1000 genomes]
rs35235058	0.81[ASN][1000 genomes]
rs5020305	0.87[CHB][hapmap]
rs59499291	0.82[ASN][1000 genomes]
rs702482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs836474	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs836479	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs836486	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs836488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs836490	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs836493	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs836510	0.95[CHB][hapmap]
rs836518	0.95[CHB][hapmap]
rs836523	0.95[CHB][hapmap]
rs836532	0.95[CHB][hapmap]
rs836547	0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs836560	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6407600-6412800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6407800-6413600	Weak transcription	HUVEC	blood vessel
3	chr7:6408000-6413400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:6408200-6412800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:6408200-6412800	Weak transcription	Placenta	Placenta
6	chr7:6408200-6413200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:6408200-6413400	Weak transcription	Fetal Intestine Large	intestine
8	chr7:6408400-6413200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:6409800-6413600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:6409800-6414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:6411600-6412800	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:6412200-6412800	Enhancers	K562	blood
13	chr7:6412200-6413600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:6412400-6412800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr7:6412400-6413000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:6412400-6413200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:6412400-6413400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:6412400-6413800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:6412600-6412800	Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr7:6412600-6412800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr7:6412600-6413000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr7:6412600-6413000	Flanking Active TSS	GM12878-XiMat	blood
23	chr7:6412600-6413200	Enhancers	Duodenum Mucosa	Duodenum
24	chr7:6412600-6413400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr7:6412600-6413400	Enhancers	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links