Variant report

Variant	rs73059247
Chromosome Location	chr2:206041082-206041083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73057197	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73059249	1.00[AMR][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	chr2:206009000-206058000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:206021600-206053000	Weak transcription	Ovary	ovary
3	chr2:206021600-206058000	Weak transcription	Left Ventricle	heart
4	chr2:206024200-206060400	Weak transcription	Liver	Liver
5	chr2:206025000-206052000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:206025200-206052600	Weak transcription	Fetal Stomach	stomach
7	chr2:206025200-206060200	Weak transcription	Pancreas	Pancrea
8	chr2:206025800-206047600	Weak transcription	Aorta	Aorta
9	chr2:206025800-206058000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:206026000-206058000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:206026600-206042600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:206027400-206045600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:206028600-206052800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:206035800-206042400	Weak transcription	Fetal Lung	lung
15	chr2:206036200-206042400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:206036600-206041200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:206037600-206057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:206039000-206059600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:206039400-206041200	Weak transcription	HSMM	muscle
20	chr2:206039800-206042000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:206040000-206041400	Enhancers	Fetal Brain Male	brain
22	chr2:206040000-206041600	Enhancers	Fetal Brain Female	brain
23	chr2:206040600-206041400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:206040600-206041400	Enhancers	Brain Germinal Matrix	brain
25	chr2:206040600-206041600	Enhancers	NHDF-Ad	bronchial
26	chr2:206040600-206042200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:206040800-206058000	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:206041000-206048200	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links