Variant report

Variant	rs10252311
Chromosome Location	chr7:112542768-112542769
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10233800	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10236439	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10236707	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10237085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10240478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10241725	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10247997	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10259048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10263057	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10269437	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10277476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279386	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280036	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280117	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10441329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28378392	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28542840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28589798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28634829	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28832579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs500280	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59569539	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61680362	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73718120	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718123	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718124	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718131	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718132	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718133	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718138	1.00[AMR][1000 genomes]
rs73718141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9648966	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112471800-112545200	Weak transcription	Ovary	ovary
3	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:112515400-112551000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:112516400-112551000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:112519000-112557400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:112522200-112571000	Weak transcription	Thymus	Thymus
8	chr7:112522400-112551000	Weak transcription	Spleen	Spleen
9	chr7:112522400-112558400	Weak transcription	Gastric	stomach
10	chr7:112522400-112558800	Weak transcription	Lung	lung
11	chr7:112524200-112550800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:112524200-112556800	Weak transcription	Colonic Mucosa	Colon
13	chr7:112527200-112546600	Weak transcription	Psoas Muscle	Psoas
14	chr7:112529800-112550800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:112530200-112545600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:112530200-112547000	Weak transcription	Small Intestine	intestine
17	chr7:112530200-112551000	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:112530400-112576600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:112532400-112550800	Weak transcription	NHDF-Ad	bronchial
20	chr7:112533600-112545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:112533800-112545000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:112534200-112551000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:112534400-112551000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:112534600-112545000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:112534600-112545400	Weak transcription	Primary T cells from cord blood	blood
26	chr7:112534600-112551000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:112534800-112545000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:112534800-112548000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:112534800-112551000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:112534800-112551400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:112534800-112553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:112534800-112553600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:112535000-112544400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:112535000-112545000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:112535000-112545000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:112535000-112546000	Weak transcription	Primary B cells from cord blood	blood
37	chr7:112535000-112551000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:112535000-112551000	Weak transcription	Fetal Kidney	kidney
39	chr7:112535000-112555400	Weak transcription	Esophagus	oesophagus
40	chr7:112535200-112545000	Weak transcription	Dnd41	blood
41	chr7:112535600-112545000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:112535600-112545000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:112535600-112550800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:112535600-112553800	Weak transcription	Placenta	Placenta
45	chr7:112535800-112543000	Weak transcription	Fetal Thymus	thymus
46	chr7:112535800-112546000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:112536000-112545800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:112536200-112550000	Weak transcription	HSMM	muscle
49	chr7:112538400-112551000	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:112538800-112545000	Weak transcription	Left Ventricle	heart

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