Variant report

Variant	rs7687292
Chromosome Location	chr4:174331335-174331336
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174328825..174332802-chr4:174333189..174337913,4	K562	blood:
2	chr4:174330673..174331655-chr4:174341138..174341674,2	K562	blood:
3	chr4:174319036..174321557-chr4:174329622..174331451,2	K562	blood:
4	chr4:174249352..174252508-chr4:174330500..174334847,4	K562	blood:

Variant related genes	Relation type
ENSG00000242882	Chromatin interaction
ENSG00000248774	Chromatin interaction
ENSG00000164106	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10004826	1.00[EUR][1000 genomes]
rs10010027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10026947	1.00[EUR][1000 genomes]
rs10030028	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13137653	1.00[CEU][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1481119	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28444875	1.00[EUR][1000 genomes]
rs28623383	1.00[EUR][1000 genomes]
rs28664683	1.00[EUR][1000 genomes]
rs28820378	1.00[EUR][1000 genomes]
rs4695834	1.00[CEU][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4696070	1.00[CEU][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4696074	1.00[EUR][1000 genomes]
rs56989541	1.00[EUR][1000 genomes]
rs57940169	1.00[EUR][1000 genomes]
rs6823255	1.00[EUR][1000 genomes]
rs6848013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6848866	1.00[EUR][1000 genomes]
rs6852086	1.00[CEU][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7655268	0.84[AFR][1000 genomes]
rs7675319	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7690040	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7695846	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv461841	chr4:174330663-174423013	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv596233	chr4:174330663-174423013	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174293400-174333200	Weak transcription	Gastric	stomach
2	chr4:174294000-174340400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:174294200-174334400	Weak transcription	Right Ventricle	heart
4	chr4:174294200-174341600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:174294600-174338000	Weak transcription	Fetal Brain Male	brain
6	chr4:174294800-174334200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:174294800-174336200	Weak transcription	Adipose Nuclei	Adipose
8	chr4:174294800-174341800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:174295400-174331400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:174295400-174332200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:174295400-174335800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:174297200-174333400	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:174297200-174338000	Weak transcription	Esophagus	oesophagus
14	chr4:174297400-174338000	Weak transcription	Fetal Lung	lung
15	chr4:174300200-174339000	Weak transcription	Ovary	ovary
16	chr4:174300400-174333000	Weak transcription	Fetal Stomach	stomach
17	chr4:174303000-174333200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:174318000-174331400	Weak transcription	Lung	lung
19	chr4:174319600-174335400	Weak transcription	Fetal Brain Female	brain
20	chr4:174319600-174341800	Weak transcription	NHDF-Ad	bronchial
21	chr4:174320600-174331400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:174320600-174332000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:174320600-174335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:174320800-174335600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:174320800-174347000	Weak transcription	Aorta	Aorta
26	chr4:174321000-174341800	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:174321000-174341800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:174322400-174333000	Weak transcription	Pancreas	Pancrea
29	chr4:174323800-174333800	Weak transcription	Primary B cells from cord blood	blood
30	chr4:174324600-174346200	Weak transcription	HSMMtube	muscle
31	chr4:174324800-174345600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:174325800-174341800	Weak transcription	Brain Germinal Matrix	brain
33	chr4:174327400-174333800	Weak transcription	Dnd41	blood
34	chr4:174327400-174341600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:174327600-174332200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:174327600-174332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:174328000-174333800	Weak transcription	Stomach Mucosa	stomach
38	chr4:174329800-174335600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:174330400-174331400	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:174330400-174333200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr4:174330600-174332600	Enhancers	Brain Angular Gyrus	brain
42	chr4:174330600-174336200	Weak transcription	Osteobl	bone
43	chr4:174330800-174331600	Enhancers	Brain Substantia Nigra	brain
44	chr4:174330800-174332600	Enhancers	Brain Hippocampus Middle	brain
45	chr4:174331000-174331600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr4:174331000-174331800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:174331000-174332400	Enhancers	Brain Anterior Caudate	brain
48	chr4:174331200-174331400	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr4:174331200-174331600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:174331200-174331600	Enhancers	Left Ventricle	heart

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