Variant report

Variant	rs10250630
Chromosome Location	chr7:112401786-112401787
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112400628..112403193-chr7:112407216..112411112,3	K562	blood:
2	chr7:112399378..112401790-chr7:112440568..112442211,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10226382	0.85[ASN][1000 genomes]
rs10228483	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10233896	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10234058	0.87[EUR][1000 genomes]
rs10238492	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10242871	0.81[EUR][1000 genomes]
rs10243834	0.83[AFR][1000 genomes]
rs10253054	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10256800	0.85[ASN][1000 genomes]
rs10257210	0.85[ASN][1000 genomes]
rs10261844	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10265582	0.82[ASN][1000 genomes]
rs10269793	0.84[EUR][1000 genomes]
rs10273060	0.87[EUR][1000 genomes]
rs10273589	0.84[EUR][1000 genomes]
rs10280916	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11538991	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11760733	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11761491	0.81[AMR][1000 genomes]
rs11762442	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770088	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1227155	0.84[EUR][1000 genomes]
rs1227163	0.84[EUR][1000 genomes]
rs1614000	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1615468	0.82[ASN][1000 genomes]
rs28681358	0.85[ASN][1000 genomes]
rs2905274	0.82[EUR][1000 genomes]
rs3734956	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3957315	0.91[AFR][1000 genomes]
rs4490768	0.82[ASN][1000 genomes]
rs56113805	0.82[EUR][1000 genomes]
rs56376790	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6466419	0.83[EUR][1000 genomes]
rs6946335	0.82[ASN][1000 genomes]
rs6948876	0.84[EUR][1000 genomes]
rs6950318	0.82[ASN][1000 genomes]
rs7780098	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7806781	0.85[ASN][1000 genomes]
rs9655816	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3389329	chr7:112400399-112402063	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3342852	chr7:112400556-112402171	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112385400-112422400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:112389000-112405800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:112389000-112422800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:112389200-112412800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:112390200-112422800	Weak transcription	Thymus	Thymus
6	chr7:112391600-112418200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:112393600-112429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:112394600-112406800	Weak transcription	Fetal Lung	lung
9	chr7:112394600-112407200	Weak transcription	Ovary	ovary
10	chr7:112395200-112422600	Weak transcription	Right Ventricle	heart
11	chr7:112395600-112422400	Weak transcription	Aorta	Aorta
12	chr7:112396000-112407000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:112396000-112407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:112396200-112409000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:112396200-112428600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:112396400-112403400	Weak transcription	Fetal Heart	heart
17	chr7:112397000-112418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:112397000-112428000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:112397400-112422200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:112397600-112429600	Weak transcription	Pancreas	Pancrea
21	chr7:112398000-112407200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:112398000-112408000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:112398200-112404600	Weak transcription	Primary T cells from cord blood	blood
24	chr7:112398800-112428800	Weak transcription	Gastric	stomach
25	chr7:112399400-112407000	Weak transcription	Adipose Nuclei	Adipose
26	chr7:112400000-112407200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:112400000-112426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:112400200-112422400	Weak transcription	Left Ventricle	heart
29	chr7:112400200-112429000	Weak transcription	HSMM	muscle
30	chr7:112400400-112408400	Weak transcription	NHEK	skin
31	chr7:112400600-112428600	Weak transcription	Brain Substantia Nigra	brain

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