Variant report

Variant	rs6466426
Chromosome Location	chr7:112625870-112625871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112623073..112625908-chr7:112627681..112629451,2	K562	blood:
2	chr7:112609190..112612964-chr7:112622640..112627113,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10245346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263458	1.00[EUR][1000 genomes]
rs10274958	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705837	1.00[ASN][1000 genomes]
rs13224834	1.00[ASN][1000 genomes]
rs2197954	1.00[ASN][1000 genomes]
rs4255057	1.00[ASN][1000 genomes]
rs4552835	1.00[ASN][1000 genomes]
rs7341468	1.00[ASN][1000 genomes]
rs73416754	1.00[EUR][1000 genomes]
rs73440344	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73718144	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112594200-112630400	Weak transcription	Left Ventricle	heart
2	chr7:112622400-112627800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:112625000-112626000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:112625000-112626800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:112625000-112629000	Enhancers	HMEC	breast
6	chr7:112625000-112631200	Enhancers	Fetal Heart	heart
7	chr7:112625200-112626800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:112625200-112626800	Enhancers	NHEK	skin
9	chr7:112625400-112626200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:112625400-112626200	Active TSS	Colon Smooth Muscle	Colon
11	chr7:112625400-112626400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:112625400-112626400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:112625600-112626200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:112625600-112626200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:112625600-112626400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:112625600-112626400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:112625600-112626400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:112625600-112626400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:112625600-112626400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:112625600-112626400	Flanking Active TSS	Osteobl	bone
21	chr7:112625600-112626600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:112625600-112626600	Enhancers	Fetal Intestine Small	intestine
23	chr7:112625600-112626600	Enhancers	HSMMtube	muscle
24	chr7:112625600-112627400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:112625600-112627400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:112625600-112627800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:112625600-112627800	Enhancers	NHDF-Ad	bronchial
28	chr7:112625600-112628200	Enhancers	HSMM	muscle
29	chr7:112625800-112626000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:112625800-112626000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:112625800-112626200	Flanking Active TSS	NHLF	lung
32	chr7:112625800-112626600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:112625800-112626600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr7:112625800-112626800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:112625800-112626800	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:112625800-112626800	Enhancers	Placenta	Placenta
37	chr7:112625800-112626800	Flanking Active TSS	NH-A	brain
38	chr7:112625800-112628600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:112625800-112629200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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