Variant report

Variant	rs6847748
Chromosome Location	chr4:30946893-30946894
allele	C/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	TCF7L2	chr4:30946739-30947481	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
PCDH7	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12508739	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12512667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34067925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35036278	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61795878	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667395	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692684	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9884332	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30914200-30947200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:30920600-30947400	Weak transcription	Fetal Stomach	stomach
3	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
4	chr4:30935200-30947400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:30941600-30947200	Weak transcription	HMEC	breast
6	chr4:30941600-30951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:30941800-30947200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:30941800-30947200	Weak transcription	Hela-S3	cervix
9	chr4:30941800-30947200	Weak transcription	NHEK	skin
10	chr4:30943400-30947400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:30945000-30947000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:30945000-30952400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:30945200-30954000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:30945400-30947400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:30945400-30950200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:30945400-30954600	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:30945600-30947200	Weak transcription	Fetal Heart	heart
18	chr4:30945600-30947400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:30945800-30947400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:30946600-30947200	Enhancers	HUVEC	blood vessel
21	chr4:30946800-30948200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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