Variant report

Variant	rs7810999
Chromosome Location	chr7:39794529-39794530
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10252318	1.00[YRI][hapmap]
rs10486798	0.89[CEU][hapmap]
rs10486800	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs11764316	0.81[EUR][1000 genomes]
rs11765134	0.84[CEU][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs11769907	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17416652	0.89[CEU][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs17507685	0.89[CEU][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs17507748	0.89[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs17508696	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2329462	0.89[CEU][hapmap]
rs2329463	0.89[CEU][hapmap]
rs4723882	0.89[CEU][hapmap]
rs4723883	0.88[CEU][hapmap]
rs4723884	0.89[CEU][hapmap]
rs6462944	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6462951	1.00[YRI][hapmap]
rs6968742	0.89[CEU][hapmap]
rs7777173	0.89[CEU][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs7777339	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7796063	0.89[CEU][hapmap]
rs7807233	0.89[CEU][hapmap];1.00[YRI][hapmap];0.80[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	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39774200-39807400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:39774400-39797600	Weak transcription	Thymus	Thymus
3	chr7:39775800-39796400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:39775800-39807000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:39775800-39811200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:39776600-39820400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:39782400-39809000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:39784800-39802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
10	chr7:39789600-39807200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:39793400-39794600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:39793400-39794600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:39793400-39794600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:39793400-39794600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:39793400-39794600	Enhancers	Fetal Muscle Leg	muscle
16	chr7:39793400-39795200	Enhancers	Fetal Lung	lung
17	chr7:39793400-39799800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:39793400-39802000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:39793800-39794600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:39793800-39794600	Enhancers	Fetal Stomach	stomach
21	chr7:39793800-39794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:39793800-39794800	Enhancers	HMEC	breast
23	chr7:39793800-39795000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:39793800-39795000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:39793800-39795000	Enhancers	Osteobl	bone
26	chr7:39793800-39795200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:39793800-39795200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:39794000-39794600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:39794000-39794600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:39794000-39794600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:39794000-39794600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:39794000-39794600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:39794000-39794600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr7:39794000-39794600	Enhancers	Fetal Intestine Small	intestine
35	chr7:39794000-39794600	Enhancers	Right Atrium	heart
36	chr7:39794000-39794800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:39794000-39794800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:39794000-39794800	Enhancers	HSMM	muscle
39	chr7:39794000-39794800	Enhancers	HSMMtube	muscle
40	chr7:39794000-39794800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr7:39794000-39795000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr7:39794000-39795000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:39794000-39795200	Enhancers	HUVEC	blood vessel
44	chr7:39794000-39795400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:39794000-39795400	Enhancers	GM12878-XiMat	blood
46	chr7:39794000-39830800	Weak transcription	Pancreas	Pancrea
47	chr7:39794200-39794600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:39794200-39794600	Enhancers	HepG2	liver
49	chr7:39794200-39794600	Active TSS	NHLF	lung
50	chr7:39794200-39794800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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