Variant report

Variant	rs12662953
Chromosome Location	chr6:132109734-132109735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr6:132109538-132109906	HepG2	liver:	n/a	n/a
2	CTCF	chr6:132109640-132109816	Fibrobl	skin:	n/a	n/a
3	RAD21	chr6:132109578-132109902	HepG2	liver:	n/a	n/a
4	CTCF	chr6:132109640-132109790	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr6:132109660-132109810	HAc	cerebellar:	n/a	n/a
6	CTCF	chr6:132109660-132109810	AG09319	gingival:	n/a	n/a
7	CTCF	chr6:132109640-132109790	AG10803	skin:	n/a	n/a
8	CTCF	chr6:132109640-132109790	HRE	kidney:	n/a	n/a
9	CTCF	chr6:132109680-132109830	AG09319	gingival:	n/a	n/a
10	CTCF	chr6:132109680-132109830	AG04449	skin:	n/a	n/a
11	CTCF	chr6:132109640-132109790	HepG2	liver:	n/a	n/a
12	CTCF	chr6:132109690-132109810	Lung_OC	lung:	n/a	n/a
13	RAD21	chr6:132109465-132109846	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:132109700-132109850	BJ	skin:	n/a	n/a
15	CTCF	chr6:132109620-132109770	HA-sp	spinal cord:	n/a	n/a
16	CTCF	chr6:132109692-132109797	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr6:132109620-132109770	RPTEC	kidney:	n/a	n/a
18	CTCF	chr6:132109700-132109784	K562	blood:	n/a	n/a
19	CTCF	chr6:132109640-132109790	AG09309	skin:	n/a	n/a
20	CTCF	chr6:132109566-132109932	IMR90	lung:	n/a	n/a
21	CTCF	chr6:132109700-132109850	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr6:132109713-132109913	K562	blood:	n/a	n/a
23	CTCF	chr6:132109640-132109790	AG04450	lung:	n/a	n/a
24	CTCF	chr6:132109691-132109782	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:132109688-132109774	LNCaP	prostate:	n/a	n/a
26	CTCF	chr6:132109660-132109810	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr6:132109642-132109814	ProgFib	skin:	n/a	n/a
28	CTCF	chr6:132109680-132109830	BJ	skin:	n/a	n/a
29	CTCF	chr6:132109629-132109809	HepG2	liver:	n/a	n/a
30	CTCF	chr6:132109600-132109750	HAc	cerebellar:	n/a	n/a
31	CTCF	chr6:132109620-132109770	HPAF	blood vessel:	n/a	n/a
32	RAD21	chr6:132109486-132109981	HepG2	liver:	n/a	n/a
33	CTCF	chr6:132109640-132109790	HPAF	blood vessel:	n/a	n/a
34	JUND	chr6:132109621-132109777	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr6:132109720-132109870	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr6:132109700-132109850	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:132109700-132109850	HCFaa	heart:	n/a	n/a
38	CTCF	chr6:132109680-132109830	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr6:132109660-132109810	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr6:132109700-132109850	NHLF	lung:	n/a	n/a
41	FOXA2	chr6:132109627-132109800	HepG2	liver:	n/a	n/a
42	CTCF	chr6:132109660-132109810	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr6:132109662-132109806	Gliobla	brain:	n/a	n/a
44	CTCF	chr6:132109640-132109790	HMF	breast:	n/a	n/a
45	CTCF	chr6:132109680-132109830	HPF	lung:	n/a	n/a
46	CTCF	chr6:132109660-132109810	AG10803	skin:	n/a	n/a
47	CTCF	chr6:132109660-132109810	AG09309	skin:	n/a	n/a
48	RAD21	chr6:132109601-132109846	HepG2	liver:	n/a	n/a
49	RAD21	chr6:132109294-132109904	IMR90	lung:	n/a	n/a
50	CTCF	chr6:132109584-132109904	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
MIR548H5	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11154643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11964053	1.00[JPT][hapmap]
rs12660595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12661063	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12663389	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12664747	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12664750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12665617	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17060590	1.00[JPT][hapmap]
rs3908474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4371863	1.00[AMR][1000 genomes]
rs61027777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6909628	1.00[JPT][hapmap]
rs73537697	1.00[AMR][1000 genomes]
rs73539605	1.00[AMR][1000 genomes]
rs73539606	1.00[AMR][1000 genomes]
rs73539675	1.00[AMR][1000 genomes]
rs943004	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv830809	chr6:131953928-132126417	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv5479	chr6:132101897-132136593	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	esv2630901	chr6:132105802-132109925	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3494780	chr6:132105884-132109857	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv21004	chr6:132106620-132118530	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv604667	chr6:132106988-132115081	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132106400-132113000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:132107600-132109800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:132107600-132110800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:132107800-132110800	Enhancers	NHDF-Ad	bronchial
5	chr6:132108000-132110600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:132108000-132111000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:132108600-132109800	Enhancers	Adipose Nuclei	Adipose
8	chr6:132108600-132110600	Enhancers	NHLF	lung
9	chr6:132108600-132111000	Enhancers	Osteobl	bone
10	chr6:132108800-132109800	Enhancers	Fetal Muscle Leg	muscle
11	chr6:132108800-132110000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:132108800-132110800	Enhancers	HSMM	muscle
13	chr6:132109000-132109800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:132109000-132109800	Enhancers	Fetal Stomach	stomach
15	chr6:132109000-132109800	Enhancers	Ovary	ovary
16	chr6:132109200-132109800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:132109200-132110800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:132109400-132109800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:132109400-132109800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:132109600-132109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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