Variant report

Variant	rs62285080
Chromosome Location	chr3:156247264-156247265
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156241921..156243592-chr3:156245166..156248147,2	K562	blood:
2	chr3:156246209..156247822-chr3:156271584..156273322,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272990	Chromatin interaction
ENSG00000114850	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11710604	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11718384	0.95[ASN][1000 genomes]
rs13065924	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13088140	0.89[ASN][1000 genomes]
rs1607462	0.92[ASN][1000 genomes]
rs35201541	0.92[ASN][1000 genomes]
rs35842413	0.92[ASN][1000 genomes]
rs58308618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58814370	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61155568	0.95[ASN][1000 genomes]
rs62285074	0.97[ASN][1000 genomes]
rs6441074	0.97[ASN][1000 genomes]
rs6441075	0.97[ASN][1000 genomes]
rs6441076	0.97[ASN][1000 genomes]
rs7619602	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv829764	chr3:156174824-156347774	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	nsv877683	chr3:156180366-156272351	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62285080	SSR3	Cis_1M	lymphoblastoid	RTeQTL
rs62285080	KCNAB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156230200-156251000	Weak transcription	Left Ventricle	heart
2	chr3:156232200-156249200	Weak transcription	Gastric	stomach
3	chr3:156234400-156248600	Weak transcription	Brain Anterior Caudate	brain
4	chr3:156234400-156251200	Weak transcription	Ovary	ovary
5	chr3:156236000-156250200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:156236200-156247600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:156236800-156251000	Weak transcription	Pancreas	Pancrea
8	chr3:156236800-156251200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:156237200-156250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:156238200-156251400	Weak transcription	A549	lung
11	chr3:156240400-156260200	Weak transcription	Esophagus	oesophagus
12	chr3:156240600-156251800	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:156240800-156248000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:156241400-156248200	Weak transcription	Brain Angular Gyrus	brain
15	chr3:156241600-156250800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:156241600-156255800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:156241800-156251000	Weak transcription	HSMMtube	muscle
18	chr3:156242000-156253000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:156242200-156251200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:156243000-156255200	Weak transcription	Dnd41	blood
21	chr3:156243200-156251000	Weak transcription	HSMM	muscle
22	chr3:156243200-156253800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:156243200-156255600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:156243200-156255600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:156243200-156255800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr3:156243200-156256600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:156243200-156256800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:156243200-156256800	Weak transcription	GM12878-XiMat	blood
29	chr3:156243200-156257000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:156243200-156257000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:156243200-156258800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:156243400-156256600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:156243400-156256800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:156244000-156249800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:156244000-156257000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:156244200-156250400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:156244400-156253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:156244600-156248600	Weak transcription	Adipose Nuclei	Adipose
39	chr3:156244600-156257000	Weak transcription	Lung	lung
40	chr3:156244800-156252200	Weak transcription	NHLF	lung
41	chr3:156245000-156257000	Weak transcription	Spleen	Spleen
42	chr3:156245400-156257200	Weak transcription	Fetal Brain Male	brain
43	chr3:156246000-156249400	Enhancers	Brain Hippocampus Middle	brain
44	chr3:156246000-156253200	Weak transcription	Fetal Stomach	stomach
45	chr3:156246200-156249600	Enhancers	Brain Substantia Nigra	brain
46	chr3:156246600-156248200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:156246600-156248600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:156246600-156252800	Weak transcription	Liver	Liver
49	chr3:156246800-156248200	Weak transcription	Primary T cells from cord blood	blood
50	chr3:156246800-156252800	Weak transcription	Fetal Intestine Small	intestine

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