Variant report

Variant	rs2706794
Chromosome Location	chr4:122747661-122747662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122745296..122747989-chr4:122762768..122765096,2	K562	blood:
2	chr4:122745115..122747989-chr4:122763596..122768679,4	K562	blood:
3	chr4:122613955..122616296-chr4:122745989..122748814,2	K562	blood:
4	chr4:122609696..122612214-chr4:122746290..122748516,2	K562	blood:
5	chr4:122743548..122747768-chr4:122748127..122751699,7	K562	blood:

Variant related genes	Relation type
ENSG00000138686	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12644087	0.84[CHD][hapmap];1.00[EUR][1000 genomes]
rs1507987	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1507988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2661556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2706797	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2706801	0.91[ASN][1000 genomes]
rs28478110	1.00[AMR][1000 genomes]
rs3749475	0.88[CHB][hapmap];0.84[CHD][hapmap]
rs3762839	0.88[CHB][hapmap];0.82[CHD][hapmap]
rs3811743	0.99[ASN][1000 genomes]
rs4001033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs769240	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122745400-122748200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:122745400-122750600	Weak transcription	Gastric	stomach
3	chr4:122745400-122750600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:122745400-122751200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:122745400-122753200	Weak transcription	Lung	lung
6	chr4:122745400-122767200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:122745400-122777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:122745400-122790400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:122745400-122790600	Weak transcription	Small Intestine	intestine
10	chr4:122745600-122748400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:122745600-122748400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:122745600-122748400	Weak transcription	NH-A	brain
13	chr4:122745600-122749000	Weak transcription	NHLF	lung
14	chr4:122745600-122750400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:122745600-122750600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:122745600-122750600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:122745600-122750600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:122745600-122750600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:122745600-122750600	Weak transcription	Left Ventricle	heart
20	chr4:122745600-122750800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:122745600-122751800	Weak transcription	Ovary	ovary
22	chr4:122745600-122758000	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:122745600-122758600	Weak transcription	Fetal Kidney	kidney
24	chr4:122745600-122759800	Weak transcription	Fetal Thymus	thymus
25	chr4:122745600-122760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:122745600-122762000	Weak transcription	Aorta	Aorta
27	chr4:122745600-122764000	Weak transcription	Colonic Mucosa	Colon
28	chr4:122745600-122766200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:122745600-122766600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:122745600-122767200	Weak transcription	Esophagus	oesophagus
31	chr4:122745600-122767200	Weak transcription	Right Ventricle	heart
32	chr4:122745600-122767800	Weak transcription	Pancreas	Pancrea
33	chr4:122745600-122767800	Weak transcription	Thymus	Thymus
34	chr4:122745600-122769200	Weak transcription	Hela-S3	cervix
35	chr4:122745600-122770000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr4:122745600-122781600	Weak transcription	Placenta	Placenta
37	chr4:122745600-122790400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:122745600-122790600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:122745600-122790800	Weak transcription	Psoas Muscle	Psoas
40	chr4:122745800-122748000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:122745800-122748000	Weak transcription	Brain Germinal Matrix	brain
42	chr4:122745800-122748200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:122745800-122748400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:122745800-122748400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:122745800-122748400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:122745800-122748400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:122745800-122748400	Weak transcription	Brain Anterior Caudate	brain
48	chr4:122745800-122748400	Weak transcription	Fetal Brain Female	brain
49	chr4:122745800-122748400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:122745800-122748400	Weak transcription	NHDF-Ad	bronchial

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