Variant report

Variant	rs4896011
Chromosome Location	chr6:134214753-134214754
allele	A/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	POLR2A	chr6:134211788-134215010	H1-neurons	neurons:	n/a	n/a
2	SUZ12	chr6:134213672-134214798	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr6:134213542-134214999	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134201468..134203267-chr6:134213845..134216658,2	K562	blood:
2	chr6:134214451..134216524-chr6:134225200..134227835,2	K562	blood:

Variant related genes	Relation type
ENSG00000227954	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1208276	0.89[CEU][hapmap]
rs1208277	0.89[CEU][hapmap]
rs1414669	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs149418	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572425	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162183	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162184	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162186	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162187	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162188	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327431	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2327433	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs2327434	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs328455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328456	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896012	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932322	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693702	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7766238	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7774514	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389113	0.88[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs9389114	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402546	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402547	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134209200-134215200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
2	chr6:134212200-134214800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:134212200-134215000	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr6:134212800-134215400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
5	chr6:134212800-134217000	Active TSS	Right Atrium	heart
6	chr6:134213000-134215400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
7	chr6:134213200-134215800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:134213200-134216200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:134213600-134214800	Enhancers	Pancreas	Pancrea
10	chr6:134213600-134215400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
11	chr6:134213600-134216600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
12	chr6:134213800-134214800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr6:134213800-134215000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
14	chr6:134213800-134215600	Weak transcription	A549	lung
15	chr6:134214000-134215800	Transcr. at gene 5' and 3'	NHLF	lung
16	chr6:134214400-134214800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
17	chr6:134214400-134215200	Bivalent/Poised TSS	Fetal Brain Male	brain
18	chr6:134214400-134217600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr6:134214600-134215000	Bivalent/Poised TSS	Placenta	Placenta
20	chr6:134214600-134215400	Active TSS	Ovary	ovary
21	chr6:134214600-134216800	Weak transcription	Right Ventricle	heart
22	chr6:134214600-134217200	Weak transcription	Gastric	stomach
23	chr6:134214600-134217400	Flanking Bivalent TSS/Enh	Fetal Lung	lung

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