Variant report

Variant	rs10197062
Chromosome Location	chr2:54006758-54006759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54006024..54008035-chr2:54009628..54012351,2	K562	blood:
2	chr2:54005450..54009450-chr2:54009767..54014218,9	K562	blood:
3	chr2:53993911..53997608-chr2:54000470..54007207,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143942	Chromatin interaction
ENSG00000068912	Chromatin interaction
ENSG00000115239	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10181752	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10181876	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10185375	0.85[ASN][1000 genomes]
rs10187718	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10190578	0.87[ASN][1000 genomes]
rs10191950	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10193711	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10200897	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10210726	0.82[ASN][1000 genomes]
rs10211188	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10211650	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10490470	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11684574	0.85[ASN][1000 genomes]
rs12612589	0.90[ASN][1000 genomes]
rs12613682	0.83[ASN][1000 genomes]
rs12616124	0.88[ASN][1000 genomes]
rs12616774	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12617360	0.83[ASN][1000 genomes]
rs12617668	0.89[ASN][1000 genomes]
rs12620190	0.88[ASN][1000 genomes]
rs12620208	0.88[ASN][1000 genomes]
rs12620325	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12621547	0.81[ASN][1000 genomes]
rs12621557	0.84[ASN][1000 genomes]
rs12621635	0.84[ASN][1000 genomes]
rs13383167	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13393197	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13414183	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13414472	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13415842	0.86[ASN][1000 genomes]
rs13421512	0.83[ASN][1000 genomes]
rs13423576	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17045125	0.82[ASN][1000 genomes]
rs17045215	0.93[ASN][1000 genomes]
rs2009149	0.82[ASN][1000 genomes]
rs2287344	0.88[ASN][1000 genomes]
rs2287345	0.88[ASN][1000 genomes]
rs28439002	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3755120	0.83[ASN][1000 genomes]
rs3770398	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3770400	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3770401	0.82[ASN][1000 genomes]
rs3821080	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3850345	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3861570	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55839073	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6705484	0.93[ASN][1000 genomes]
rs6712204	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714424	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6717642	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7568771	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7582542	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7586686	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7595713	0.83[ASN][1000 genomes]
rs7595816	0.85[ASN][1000 genomes]
rs7609067	0.82[AMR][1000 genomes];0.89[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	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1009829	chr2:53980562-54051927	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10197062	ASB3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53995600-54007400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:53995600-54007400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:53995600-54007800	Weak transcription	Placenta	Placenta
4	chr2:53995600-54008400	Weak transcription	Ovary	ovary
5	chr2:53995600-54009000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:53995600-54009000	Weak transcription	Lung	lung
7	chr2:53995600-54011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:53995600-54011400	Weak transcription	Right Atrium	heart
9	chr2:53995600-54011600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:53995600-54012000	Weak transcription	Left Ventricle	heart
11	chr2:53995600-54012800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:53995800-54006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:53995800-54008600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:53995800-54011400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:53995800-54011600	Weak transcription	Psoas Muscle	Psoas
16	chr2:53995800-54011800	Weak transcription	Right Ventricle	heart
17	chr2:53995800-54012000	Weak transcription	Adipose Nuclei	Adipose
18	chr2:53995800-54012200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:53995800-54012400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:53995800-54012600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:53996000-54006800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:53996000-54009000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:53996000-54011000	Weak transcription	Fetal Brain Male	brain
24	chr2:53996000-54011200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:53996000-54011600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:53996000-54011600	Weak transcription	Fetal Lung	lung
27	chr2:53996000-54011800	Weak transcription	NHDF-Ad	bronchial
28	chr2:53996200-54006800	Weak transcription	NH-A	brain
29	chr2:53996200-54007200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:53996200-54009800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:53996200-54011000	Weak transcription	Brain Angular Gyrus	brain
32	chr2:53996200-54011400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:53996200-54012600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:53996400-54007000	Weak transcription	Fetal Brain Female	brain
35	chr2:53996400-54007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:53996400-54009000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:53996400-54009000	Weak transcription	Brain Germinal Matrix	brain
38	chr2:53996400-54009200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:53996400-54009400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:53996400-54011000	Weak transcription	NHEK	skin
41	chr2:53996400-54011200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:53996400-54011200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:53996400-54011200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:53996400-54011400	Weak transcription	Thymus	Thymus
45	chr2:53996400-54011600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:53996400-54011800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:53996400-54011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:53996400-54012200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:53996400-54012400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:53996600-54010600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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