Variant report

Variant	rs11680758
Chromosome Location	chr2:191446268-191446269
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191398265..191400874-chr2:191441463..191447520,6	MCF-7	breast:
2	chr2:191445550..191448092-chr2:191512865..191515338,2	K562	blood:

Variant related genes	Relation type
ENSG00000138386	Chromatin interaction
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10165399	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173771	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12611871	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13006708	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28452331	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321393	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853513	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724607	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7603849	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630991	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11680758	TMEM194B	cis	cerebellum	SCAN
rs11680758	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs11680758	HIBCH	cis	Muscle Skeletal	GTEx
rs11680758	MFSD6	cis	cerebellum	SCAN
rs11680758	INPP1	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:191443600-191446600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:191443600-191448400	Weak transcription	Placenta	Placenta
4	chr2:191443800-191447000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:191443800-191447000	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:191443800-191447600	Weak transcription	Right Ventricle	heart
7	chr2:191443800-191447600	Weak transcription	NHLF	lung
8	chr2:191443800-191447800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:191443800-191448200	Weak transcription	Osteobl	bone
10	chr2:191443800-191448400	Weak transcription	Left Ventricle	heart
11	chr2:191443800-191450200	Weak transcription	Esophagus	oesophagus
12	chr2:191443800-191456600	Weak transcription	Psoas Muscle	Psoas
13	chr2:191444000-191446600	Weak transcription	Brain Substantia Nigra	brain
14	chr2:191444000-191446600	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:191444000-191446800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:191444000-191447000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:191444000-191447000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:191444000-191447400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:191444000-191447400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:191444000-191447600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:191444000-191447600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:191444000-191447600	Weak transcription	NHDF-Ad	bronchial
23	chr2:191444000-191449600	Weak transcription	Fetal Brain Male	brain
24	chr2:191444200-191446600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:191444200-191446800	Weak transcription	Brain Angular Gyrus	brain
26	chr2:191444200-191447200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:191444200-191447600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:191444200-191456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:191444400-191447000	Weak transcription	Brain Anterior Caudate	brain
30	chr2:191444800-191446400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:191444800-191447200	Weak transcription	HSMMtube	muscle
32	chr2:191445000-191448400	Weak transcription	Ovary	ovary
33	chr2:191445200-191446600	Weak transcription	Fetal Heart	heart
34	chr2:191445200-191446600	Weak transcription	Right Atrium	heart
35	chr2:191445200-191448000	Weak transcription	HMEC	breast
36	chr2:191445200-191448400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:191445400-191447600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:191445400-191450800	Enhancers	Fetal Stomach	stomach
39	chr2:191445600-191447800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:191445600-191448000	Weak transcription	NHEK	skin
41	chr2:191445600-191448400	Weak transcription	Small Intestine	intestine
42	chr2:191445800-191447400	Weak transcription	Hela-S3	cervix
43	chr2:191445800-191449000	Enhancers	K562	blood
44	chr2:191446000-191447600	Weak transcription	A549	lung
45	chr2:191446000-191448200	Enhancers	Fetal Lung	lung

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