Variant report

Variant	rs9402547
Chromosome Location	chr6:134216391-134216392
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	KAP1	chr6:134215961-134216440	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:134201468..134203267-chr6:134213845..134216658,2	K562	blood:
2	chr6:134211420..134213242-chr6:134215520..134217754,3	K562	blood:
3	chr6:134197571..134199761-chr6:134216243..134218641,2	K562	blood:
4	chr6:134214451..134216524-chr6:134225200..134227835,2	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];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1572425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162183	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162184	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162186	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162187	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162188	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2327431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327433	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2327434	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328455	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs328456	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896011	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]
rs4896012	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6569916	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6932322	0.87[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs693702	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766238	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7774514	0.85[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];0.85[EUR][1000 genomes]
rs9389114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402546	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134212800-134217000	Active TSS	Right Atrium	heart
2	chr6:134213600-134216600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
3	chr6:134214400-134217600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
4	chr6:134214600-134216800	Weak transcription	Right Ventricle	heart
5	chr6:134214600-134217200	Weak transcription	Gastric	stomach
6	chr6:134214600-134217400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
7	chr6:134214800-134216800	Weak transcription	Pancreas	Pancrea
8	chr6:134214800-134217400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:134215400-134217600	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr6:134215600-134216400	Bivalent Enhancer	Colon Smooth Muscle	Colon
11	chr6:134215600-134216800	Enhancers	A549	lung
12	chr6:134215800-134216600	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr6:134215800-134217400	Bivalent Enhancer	Fetal Heart	heart
14	chr6:134215800-134217800	Bivalent Enhancer	Small Intestine	intestine
15	chr6:134216000-134216600	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr6:134216000-134216800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:134216000-134216800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr6:134216000-134217600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr6:134216200-134216400	Flanking Active TSS	Ovary	ovary
20	chr6:134216200-134216400	Flanking Active TSS	NHLF	lung
21	chr6:134216200-134216600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr6:134216200-134216600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:134216200-134216600	Bivalent Enhancer	Fetal Kidney	kidney
24	chr6:134216200-134216800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:134216200-134217400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr6:134216200-134218000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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