Variant report

Variant	rs6956139
Chromosome Location	chr7:18676842-18676843
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10486291	0.85[ASN][1000 genomes]
rs1633787	0.90[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs1726599	0.88[CEU][hapmap];0.83[GIH][hapmap]
rs2188320	0.81[JPT][hapmap]
rs2269747	0.81[ASN][1000 genomes]
rs2269749	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2285433	0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3823968	0.89[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4719535	0.88[ASN][1000 genomes]
rs73063173	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs801539	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18641400-18687600	Weak transcription	Fetal Heart	heart
2	chr7:18644800-18678000	Weak transcription	Fetal Brain Male	brain
3	chr7:18645200-18677800	Weak transcription	NHDF-Ad	bronchial
4	chr7:18645200-18678200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:18645200-18687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:18645400-18686600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:18645400-18687400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:18645400-18687800	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
11	chr7:18645800-18684400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:18645800-18687400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:18645800-18687400	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:18645800-18706000	Weak transcription	HMEC	breast
15	chr7:18646000-18678000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:18646000-18678000	Weak transcription	Fetal Brain Female	brain
17	chr7:18646000-18687400	Weak transcription	NHEK	skin
18	chr7:18646000-18692400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr7:18647200-18687800	Weak transcription	NH-A	brain
20	chr7:18649200-18687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:18652000-18677600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:18656000-18706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:18658200-18688000	Weak transcription	Fetal Stomach	stomach
24	chr7:18659200-18678000	Weak transcription	Spleen	Spleen
25	chr7:18661800-18699800	Weak transcription	Right Ventricle	heart
26	chr7:18662800-18678000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:18662800-18687400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:18663600-18688000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:18663800-18684200	Weak transcription	Left Ventricle	heart
30	chr7:18663800-18687400	Weak transcription	Aorta	Aorta
31	chr7:18663800-18687400	Weak transcription	Brain Germinal Matrix	brain
32	chr7:18664400-18677000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:18667400-18678000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:18669200-18687400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:18670000-18678000	Weak transcription	HSMMtube	muscle
36	chr7:18671200-18680400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:18671400-18679600	Weak transcription	Small Intestine	intestine
38	chr7:18671400-18684400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:18671400-18687400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:18671400-18692600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:18671400-18705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:18671600-18694400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:18672600-18677400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:18673200-18707000	Weak transcription	Fetal Kidney	kidney
45	chr7:18674600-18678200	Weak transcription	NHLF	lung
46	chr7:18674800-18678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:18675000-18678000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:18675200-18677400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:18676000-18687400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:18676200-18684800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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