Variant report

Variant	rs10228486
Chromosome Location	chr7:33254580-33254581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10225173	0.88[ASN][1000 genomes]
rs10239299	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10251775	0.84[EUR][1000 genomes]
rs10262453	1.00[ASN][1000 genomes]
rs10271927	0.91[ASN][1000 genomes]
rs10272438	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534242	0.91[ASN][1000 genomes]
rs12537512	0.84[EUR][1000 genomes]
rs1345306	0.91[ASN][1000 genomes]
rs1420153	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17396870	0.91[ASN][1000 genomes]
rs1983511	0.80[EUR][1000 genomes]
rs28435377	1.00[ASN][1000 genomes]
rs4720113	1.00[ASN][1000 genomes]
rs4720114	1.00[ASN][1000 genomes]
rs4723276	1.00[ASN][1000 genomes]
rs6947352	0.91[ASN][1000 genomes]
rs6979640	0.91[ASN][1000 genomes]
rs7785463	0.91[ASN][1000 genomes]
rs7789007	0.91[ASN][1000 genomes]
rs9768604	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33248000-33255400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:33249400-33257200	Weak transcription	Fetal Brain Male	brain
3	chr7:33249800-33254600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:33250600-33260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:33251000-33255000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:33251400-33265400	Weak transcription	Gastric	stomach
7	chr7:33252000-33254600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:33252000-33255000	Weak transcription	Liver	Liver
9	chr7:33252000-33255200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:33252000-33262000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:33252200-33254600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:33252200-33255200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:33252400-33255200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:33252400-33261600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:33252400-33263200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:33252600-33254600	Weak transcription	Primary B cells from cord blood	blood
17	chr7:33252600-33254800	Weak transcription	HepG2	liver
18	chr7:33252600-33255400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:33252800-33255400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:33252800-33255600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:33252800-33266400	Weak transcription	Left Ventricle	heart
22	chr7:33253000-33255000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:33253000-33255800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:33253600-33257200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:33253600-33263400	Weak transcription	Primary T cells from cord blood	blood
26	chr7:33253800-33262000	Weak transcription	Aorta	Aorta
27	chr7:33254000-33254600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:33254000-33257200	Weak transcription	Fetal Stomach	stomach
29	chr7:33254000-33260600	Weak transcription	Pancreas	Pancrea
30	chr7:33254000-33262000	Weak transcription	Ovary	ovary
31	chr7:33254200-33254600	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:33254200-33255200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:33254200-33256000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:33254400-33257200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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