Variant report

Variant	rs12694018
Chromosome Location	chr2:206035434-206035435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10188191	0.94[AFR][1000 genomes]
rs12477797	0.80[ASN][1000 genomes]
rs62172701	0.85[ASN][1000 genomes]
rs62172729	0.91[ASN][1000 genomes]
rs6435274	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6435275	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs736320	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558458	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs849120	0.83[EUR][1000 genomes]
rs849124	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1000779	chr2:205969138-206064554	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009424	chr2:205969138-206078240	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525418	chr2:205969220-206077607	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205991000-206036600	Weak transcription	HSMM	muscle
2	chr2:206009000-206058000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:206014600-206035800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:206021600-206053000	Weak transcription	Ovary	ovary
5	chr2:206021600-206058000	Weak transcription	Left Ventricle	heart
6	chr2:206021800-206038000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:206023000-206036000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:206023400-206036400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:206023400-206036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:206024200-206060400	Weak transcription	Liver	Liver
11	chr2:206025000-206052000	Weak transcription	Fetal Intestine Large	intestine
12	chr2:206025200-206052600	Weak transcription	Fetal Stomach	stomach
13	chr2:206025200-206060200	Weak transcription	Pancreas	Pancrea
14	chr2:206025800-206047600	Weak transcription	Aorta	Aorta
15	chr2:206025800-206058000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:206026000-206058000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:206026600-206042600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:206027400-206038800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:206027400-206045600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:206027600-206038600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:206028600-206052800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:206031800-206040600	Weak transcription	NHDF-Ad	bronchial
23	chr2:206032000-206040600	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:206034000-206040400	Weak transcription	HSMMtube	muscle
25	chr2:206035200-206036000	Enhancers	Brain Substantia Nigra	brain
26	chr2:206035400-206035800	Weak transcription	Gastric	stomach
27	chr2:206035400-206036000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:206035400-206036200	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links