Variant report

Variant	rs7774514
Chromosome Location	chr6:134217699-134217700
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	chr6:134217049-134217714	PANC-1	pancreas:	n/a	chr6:134217413-134217429 chr6:134217413-134217429 chr6:134217416-134217425 chr6:134217417-134217426 chr6:134217414-134217428 chr6:134217417-134217427
2	SUZ12	chr6:134216738-134217730	H1-hESC	embryonic stem cell:	n/a	n/a
3	NRF1	chr6:134217684-134217724	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr6:134217507-134217878	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134211420..134213242-chr6:134215520..134217754,3	K562	blood:
2	chr6:134197571..134199761-chr6:134216243..134218641,2	K562	blood:

Variant related genes	Relation type
ENSG00000227954	TF binding region
ENSG00000227954	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1208276	0.89[CEU][hapmap]
rs1208277	0.89[CEU][hapmap]
rs149418	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1572425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162184	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162186	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162187	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162188	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2327431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327433	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2327434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328455	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs328456	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896011	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896012	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6569916	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6932322	0.87[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs693702	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766238	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389113	0.88[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9389114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402546	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134215800-134217800	Bivalent Enhancer	Small Intestine	intestine
2	chr6:134216200-134218000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr6:134216600-134217800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:134216800-134217800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr6:134216800-134217800	Bivalent Enhancer	Liver	Liver
6	chr6:134217000-134217800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:134217000-134218000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr6:134217200-134218000	Enhancers	A549	lung
9	chr6:134217200-134218000	Bivalent Enhancer	HepG2	liver
10	chr6:134217400-134217800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr6:134217400-134217800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr6:134217400-134217800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr6:134217400-134217800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:134217400-134217800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
15	chr6:134217400-134218000	Bivalent Enhancer	Brain Germinal Matrix	brain
16	chr6:134217400-134218600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:134217600-134217800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:134217600-134217800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:134217600-134217800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr6:134217600-134217800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:134217600-134217800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
22	chr6:134217600-134217800	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr6:134217600-134217800	Bivalent Enhancer	Fetal Kidney	kidney
24	chr6:134217600-134217800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
25	chr6:134217600-134217800	Enhancers	Ovary	ovary
26	chr6:134217600-134217800	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
27	chr6:134217600-134217800	Enhancers	NHLF	lung
28	chr6:134217600-134220000	Enhancers	Fetal Intestine Small	intestine

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