Variant report

Variant	rs647731
Chromosome Location	chr1:212692030-212692031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212683483..212692182-chr1:212779770..212786326,12	K562	blood:
2	chr1:212688645..212690882-chr1:212691410..212694199,2	MCF-7	breast:
3	chr1:212681247..212682870-chr1:212690581..212692939,2	K562	blood:
4	chr1:212690257..212692182-chr1:212779999..212783511,3	K562	blood:
5	chr1:212690794..212693307-chr1:212697888..212699429,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2942352	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556847	0.82[YRI][hapmap]
rs585428	0.81[MKK][hapmap];0.82[YRI][hapmap]
rs599028	0.81[MKK][hapmap];0.82[YRI][hapmap]
rs631569	0.82[YRI][hapmap]

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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212688000-212692200	Weak transcription	Left Ventricle	heart
2	chr1:212688400-212692200	Weak transcription	Right Ventricle	heart
3	chr1:212688600-212699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:212689000-212695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:212689200-212693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:212689200-212699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:212690400-212692200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:212690600-212694000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:212691000-212694600	Enhancers	Fetal Intestine Large	intestine
10	chr1:212691200-212694200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:212691200-212694800	Enhancers	Fetal Intestine Small	intestine
12	chr1:212691400-212692400	Enhancers	Liver	Liver
13	chr1:212691400-212693400	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:212691600-212692400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:212691600-212692400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:212691600-212692400	Enhancers	Osteobl	bone
17	chr1:212691600-212692600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:212691600-212692600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:212691800-212692200	Enhancers	Pancreas	Pancrea
20	chr1:212691800-212692200	Enhancers	A549	lung
21	chr1:212691800-212692200	Bivalent Enhancer	NHDF-Ad	bronchial
22	chr1:212691800-212692400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:212691800-212692400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:212691800-212692400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:212691800-212692400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:212691800-212692400	Enhancers	Brain Hippocampus Middle	brain
27	chr1:212691800-212692400	Enhancers	Fetal Heart	heart
28	chr1:212691800-212692400	Flanking Active TSS	HepG2	liver
29	chr1:212691800-212692400	Enhancers	NH-A	brain
30	chr1:212691800-212692600	Enhancers	Fetal Lung	lung
31	chr1:212691800-212692600	Enhancers	Hela-S3	cervix
32	chr1:212691800-212692800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:212691800-212692800	Enhancers	Stomach Mucosa	stomach
34	chr1:212692000-212692200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:212692000-212692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:212692000-212692200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:212692000-212692200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:212692000-212692200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:212692000-212692200	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:212692000-212692400	Enhancers	Colon Smooth Muscle	Colon
41	chr1:212692000-212692400	Enhancers	Esophagus	oesophagus
42	chr1:212692000-212692400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:212692000-212692400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr1:212692000-212692600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:212692000-212693200	Enhancers	Right Atrium	heart

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