Variant report

Variant	rs6806952
Chromosome Location	chr3:157156745-157156746
allele	A/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	POLR2A	chr3:157154220-157161217	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr3:157154085-157156888	IMR90	lung:	n/a	n/a
3	POLR2A	chr3:157154231-157157688	HUVEC	blood vessel:	n/a	n/a
4	GATA3	chr3:157156683-157157667	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr3:157154238-157163149	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr3:157154518-157157545	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157150749..157153721-chr3:157154855..157157411,2	K562	blood:

Variant related genes	Relation type
VEPH1	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2614	1.00[ASN][1000 genomes]
rs35415718	1.00[ASN][1000 genomes]
rs57861002	1.00[ASN][1000 genomes]
rs58788969	1.00[ASN][1000 genomes]
rs73028049	1.00[ASN][1000 genomes]
rs7626481	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157154000-157158000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:157154200-157157200	Active TSS	HSMM	muscle
3	chr3:157154200-157157400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr3:157154200-157157800	Active TSS	HSMMtube	muscle
5	chr3:157154400-157157000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr3:157154600-157156800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:157154600-157156800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
8	chr3:157154600-157157200	Active TSS	Rectal Smooth Muscle	rectum
9	chr3:157154600-157160800	Transcr. at gene 5' and 3'	Osteobl	bone
10	chr3:157154600-157161000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:157154800-157156800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr3:157155000-157159400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:157155200-157156800	Transcr. at gene 5' and 3'	NHLF	lung
14	chr3:157155200-157159200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:157155200-157160800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:157155200-157163400	Weak transcription	Hela-S3	cervix
17	chr3:157155400-157156800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr3:157155800-157157400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
19	chr3:157156000-157156800	Flanking Active TSS	Fetal Brain Male	brain
20	chr3:157156000-157156800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr3:157156000-157157400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:157156000-157157600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
23	chr3:157156200-157157000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr3:157156200-157157800	Flanking Active TSS	HUVEC	blood vessel
25	chr3:157156200-157160200	Weak transcription	Spleen	Spleen
26	chr3:157156400-157156800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:157156400-157156800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr3:157156400-157156800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr3:157156400-157156800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr3:157156400-157156800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr3:157156400-157157000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:157156400-157157000	Flanking Active TSS	Fetal Heart	heart
33	chr3:157156400-157157000	Flanking Active TSS	Fetal Stomach	stomach
34	chr3:157156400-157157000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr3:157156400-157160200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:157156400-157160200	Weak transcription	K562	blood
37	chr3:157156400-157160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:157156400-157160400	Weak transcription	Brain Hippocampus Middle	brain
39	chr3:157156400-157162600	Weak transcription	Gastric	stomach
40	chr3:157156600-157156800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:157156600-157156800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:157156600-157156800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:157156600-157156800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:157156600-157156800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:157156600-157156800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:157156600-157156800	Flanking Active TSS	Fetal Kidney	kidney
47	chr3:157156600-157156800	Active TSS	Fetal Lung	lung
48	chr3:157156600-157156800	Active TSS	Fetal Muscle Leg	muscle
49	chr3:157156600-157157000	Active TSS	Brain Germinal Matrix	brain
50	chr3:157156600-157157000	Flanking Active TSS	Colon Smooth Muscle	Colon

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