Variant report

Variant	rs58788969
Chromosome Location	chr3:157157938-157157939
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	POLR2A	chr3:157157705-157158403	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr3:157154238-157163149	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156892963..156894576-chr3:157156833..157158584,2	MCF-7	breast:

Variant related genes	Relation type
VEPH1	TF binding region
ENSG00000243176	Chromatin interaction

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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35415718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57861002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6806952	1.00[ASN][1000 genomes]
rs73028049	1.00[ASN][1000 genomes]
rs7626481	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];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:46 , 50 per page) page: 1

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	chr3:157154600-157160800	Transcr. at gene 5' and 3'	Osteobl	bone
3	chr3:157154600-157161000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:157155000-157159400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:157155200-157159200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:157155200-157160800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:157155200-157163400	Weak transcription	Hela-S3	cervix
8	chr3:157156200-157160200	Weak transcription	Spleen	Spleen
9	chr3:157156400-157160200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:157156400-157160200	Weak transcription	K562	blood
11	chr3:157156400-157160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:157156400-157160400	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:157156400-157162600	Weak transcription	Gastric	stomach
14	chr3:157156600-157158400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr3:157156600-157160200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:157156600-157160400	Weak transcription	Pancreas	Pancrea
17	chr3:157156600-157160600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:157156800-157158200	Active TSS	NHLF	lung
19	chr3:157156800-157158400	Enhancers	Fetal Brain Male	brain
20	chr3:157156800-157160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:157156800-157160200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:157156800-157160400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:157156800-157161800	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:157157000-157160200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:157157000-157161800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:157157200-157160600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:157157200-157163400	Weak transcription	Brain Germinal Matrix	brain
28	chr3:157157400-157158200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:157157400-157158600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr3:157157400-157158600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:157157400-157158800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:157157400-157160200	Weak transcription	Fetal Stomach	stomach
33	chr3:157157400-157160800	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:157157400-157162400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:157157600-157158200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:157157600-157158200	Weak transcription	Fetal Brain Female	brain
37	chr3:157157600-157158200	Active TSS	NHDF-Ad	bronchial
38	chr3:157157600-157158600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:157157600-157158800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr3:157157600-157160200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr3:157157600-157160200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:157157800-157158000	Weak transcription	HSMM	muscle
43	chr3:157157800-157158800	Weak transcription	NH-A	brain
44	chr3:157157800-157159800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
45	chr3:157157800-157160200	Weak transcription	Fetal Lung	lung
46	chr3:157157800-157162000	Weak transcription	HSMMtube	muscle

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