Variant report

Variant	rs7136373
Chromosome Location	chr12:122218489-122218490
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122216844..122219009-chr12:122328314..122331162,2	K562	blood:
2	chr12:122217817..122222625-chr12:122235790..122242692,8	K562	blood:
3	chr12:122149890..122152488-chr12:122217666..122219676,2	MCF-7	breast:
4	chr12:122214229..122218603-chr12:122325636..122328202,4	MCF-7	breast:
5	chr12:122218052..122221666-chr12:122223927..122226116,4	MCF-7	breast:
6	chr12:122216201..122218544-chr12:122220514..122222536,2	K562	blood:
7	chr12:122216581..122218765-chr12:122219403..122221969,2	MCF-7	breast:
8	chr12:122213667..122215925-chr12:122218453..122221543,3	MCF-7	breast:
9	chr12:122218382..122220105-chr12:122236095..122239038,2	K562	blood:
10	chr12:122217066..122219995-chr12:122220346..122223627,4	MCF-7	breast:
11	chr12:122209251..122211627-chr12:122216844..122219191,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETD1B-4	chr12:122218358-122218656	NONHSAT031438

No data

Variant related genes	Relation type
ENSG00000139718	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10082850	0.91[EUR][1000 genomes]
rs11043207	1.00[CHB][hapmap]
rs1168663	0.86[ASN][1000 genomes]
rs1168664	0.86[ASN][1000 genomes]
rs1168666	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1168671	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1168673	0.86[ASN][1000 genomes]
rs11834522	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11837955	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12299238	0.91[EUR][1000 genomes]
rs12303659	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12310051	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312375	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12314801	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs12318048	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12832268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832320	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667579	0.86[ASN][1000 genomes]
rs28493021	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34226605	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34415086	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3741588	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs712852	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7300684	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308123	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308348	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413728	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73413732	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7974348	1.00[CHB][hapmap]
rs895954	1.00[CHB][hapmap]
rs9165	0.93[LWK][hapmap];0.82[YRI][hapmap]
rs9282	0.93[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7136373	LOC338799	cis	multi-tissue	Pritchard
rs7136373	RHOF	cis	parietal	SCAN
rs7136373	SBNO1	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
2	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:122206600-122219400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:122206600-122219400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:122206600-122219400	Weak transcription	Osteobl	bone
7	chr12:122206600-122219600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:122206600-122220000	Weak transcription	Brain Anterior Caudate	brain
9	chr12:122206600-122226400	Weak transcription	Aorta	Aorta
10	chr12:122208400-122219600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:122211400-122219400	Weak transcription	K562	blood
12	chr12:122211600-122219200	Strong transcription	Fetal Stomach	stomach
13	chr12:122211600-122219400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:122211600-122225000	Weak transcription	Psoas Muscle	Psoas
15	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:122211800-122218600	Weak transcription	NHEK	skin
17	chr12:122211800-122219000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:122211800-122219000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:122211800-122219000	Weak transcription	NH-A	brain
20	chr12:122211800-122219200	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:122211800-122219400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:122211800-122219400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:122211800-122219400	Weak transcription	HSMM	muscle
24	chr12:122211800-122219800	Weak transcription	Fetal Lung	lung
25	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:122212800-122219400	Weak transcription	HSMMtube	muscle
27	chr12:122213400-122221200	Genic enhancers	Fetal Thymus	thymus
28	chr12:122214200-122219800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:122214200-122228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:122214400-122220400	Weak transcription	Right Atrium	heart
31	chr12:122214600-122218600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:122214600-122219000	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:122214600-122219400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:122214600-122219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:122214600-122219400	Strong transcription	Fetal Intestine Small	intestine
36	chr12:122214600-122219600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:122214600-122219600	Weak transcription	Left Ventricle	heart
38	chr12:122214600-122219600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:122214600-122220200	Weak transcription	Stomach Mucosa	stomach
40	chr12:122214600-122224200	Weak transcription	Pancreas	Pancrea
41	chr12:122214600-122224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:122215000-122218600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:122215400-122218600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:122215400-122218600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:122215400-122218800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:122215400-122218800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:122215400-122219000	Strong transcription	Primary T cells from cord blood	blood
48	chr12:122215400-122219200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:122215400-122219200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:122215400-122219200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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