Variant report

Variant	rs6462058
Chromosome Location	chr7:27900596-27900597
allele	A/C
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:7)

rs_ID	r²[population]
rs10951178	0.82[ASN][1000 genomes]
rs10951180	0.82[ASN][1000 genomes]
rs10951181	0.82[ASN][1000 genomes]
rs11761905	0.94[CEU][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs2237344	0.82[ASN][1000 genomes]
rs62449641	0.82[ASN][1000 genomes]
rs62451069	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
2	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
3	chr7:27880600-27903000	Weak transcription	Lung	lung
4	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:27880800-27913200	Weak transcription	Aorta	Aorta
6	chr7:27881000-27905600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:27882800-27912000	Weak transcription	Brain Anterior Caudate	brain
8	chr7:27883600-27903000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:27883800-27903000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:27886400-27902000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:27889200-27912000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:27893200-27909000	Weak transcription	Right Ventricle	heart
13	chr7:27894400-27903200	Weak transcription	HMEC	breast
14	chr7:27894800-27903200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:27896000-27903400	Weak transcription	Fetal Stomach	stomach
16	chr7:27896000-27908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:27896200-27913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:27896600-27901600	Weak transcription	Primary B cells from cord blood	blood
19	chr7:27896600-27901800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:27896600-27907200	Weak transcription	Primary T cells from cord blood	blood
21	chr7:27897200-27902600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:27897200-27903000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:27897200-27903200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:27897200-27903400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:27897200-27906400	Weak transcription	Spleen	Spleen
26	chr7:27897200-27907400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:27897200-27909000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:27897200-27912000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:27897200-27915200	Weak transcription	Gastric	stomach
30	chr7:27898400-27907200	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:27899200-27903200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:27899200-27903600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:27899400-27912600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:27900000-27900600	Enhancers	Pancreas	Pancrea
35	chr7:27900400-27900600	Enhancers	Adipose Nuclei	Adipose
36	chr7:27900400-27900800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:27900400-27900800	Enhancers	Monocytes-CD14+_RO01746	blood

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