Variant report

Variant	rs72983649
Chromosome Location	chr6:132137993-132137994
allele	C/G
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	chr6:132137198-132138442	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
RN7SKP245	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28565992	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72983650	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs943004	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132130400-132140000	Weak transcription	HSMM	muscle
2	chr6:132130800-132140000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:132132200-132138200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:132132200-132148800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:132132200-132157800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:132132800-132162400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:132132800-132162800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:132133000-132142400	Weak transcription	Pancreas	Pancrea
9	chr6:132133600-132138000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:132135000-132140800	Weak transcription	Aorta	Aorta
11	chr6:132135200-132138600	Enhancers	HepG2	liver
12	chr6:132136200-132138200	Enhancers	Fetal Intestine Large	intestine
13	chr6:132136200-132138200	Enhancers	Fetal Intestine Small	intestine
14	chr6:132136400-132140800	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:132136600-132138000	Enhancers	Fetal Kidney	kidney
16	chr6:132136800-132160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:132137000-132138800	Enhancers	Liver	Liver
18	chr6:132137200-132140600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:132137200-132144400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:132137600-132138000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:132137600-132138600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:132137600-132140600	Weak transcription	NHLF	lung
23	chr6:132137800-132138200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:132137800-132138200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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