Variant report

Variant	rs697518
Chromosome Location	chr7:16759108-16759109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16756029..16759118-chr7:16759583..16761213,3	K562	blood:
2	chr7:16738450..16741409-chr7:16757154..16759357,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10245435	1.00[ASN][1000 genomes]
rs10257861	1.00[ASN][1000 genomes]
rs1144626	1.00[ASN][1000 genomes]
rs1144628	1.00[ASN][1000 genomes]
rs1149513	1.00[ASN][1000 genomes]
rs1167579	1.00[ASN][1000 genomes]
rs1177544	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs13242947	1.00[ASN][1000 genomes]
rs1626963	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136430	1.00[CEU][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34331204	0.87[EUR][1000 genomes]
rs34385943	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34494335	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697520	1.00[ASN][1000 genomes]
rs697521	0.85[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697523	1.00[ASN][1000 genomes]
rs697524	0.85[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap]
rs697525	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs706046	1.00[ASN][1000 genomes]
rs706049	1.00[ASN][1000 genomes]
rs706050	1.00[ASN][1000 genomes]
rs71540764	1.00[ASN][1000 genomes]
rs818483	1.00[ASN][1000 genomes]
rs818486	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818493	1.00[ASN][1000 genomes]
rs818494	1.00[ASN][1000 genomes]
rs818997	1.00[ASN][1000 genomes]
rs819000	1.00[ASN][1000 genomes]
rs864211	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv464397	chr7:16709708-16782767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv606338	chr7:16709708-16782767	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv887760	chr7:16714974-16776257	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16746200-16759200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:16747800-16770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:16749400-16779000	Weak transcription	Left Ventricle	heart
4	chr7:16752800-16759400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:16755000-16761000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:16758000-16759600	Enhancers	Placenta	Placenta
7	chr7:16758200-16759200	Enhancers	K562	blood
8	chr7:16758200-16759600	Enhancers	Fetal Intestine Large	intestine
9	chr7:16758200-16759600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr7:16758800-16759200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr7:16758800-16759400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:16758800-16759400	Enhancers	Stomach Mucosa	stomach
13	chr7:16758800-16759400	Enhancers	Osteobl	bone
14	chr7:16758800-16759600	Enhancers	A549	lung
15	chr7:16758800-16759800	Enhancers	Fetal Intestine Small	intestine

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