Variant report

Variant	rs4395225
Chromosome Location	chr2:173194133-173194134
allele	A/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:15)

rs_ID	r²[population]
rs12996815	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35427086	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4246620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4290625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4350710	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433351	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6714434	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6715062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6717736	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723279	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6728360	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6757748	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7425380	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7577264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7594561	1.00[CHB][hapmap];0.94[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173191200-173197800	Weak transcription	HSMMtube	muscle
2	chr2:173192400-173194200	Weak transcription	Left Ventricle	heart
3	chr2:173192800-173194400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:173193000-173194800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:173193000-173196000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:173193400-173195400	Enhancers	Fetal Muscle Leg	muscle
7	chr2:173193800-173194200	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:173193800-173194200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr2:173193800-173195200	Enhancers	Colonic Mucosa	Colon
10	chr2:173193800-173195400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:173193800-173195400	Enhancers	Adipose Nuclei	Adipose
12	chr2:173193800-173195400	Enhancers	Lung	lung
13	chr2:173193800-173195400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr2:173193800-173195400	Enhancers	Spleen	Spleen
15	chr2:173193800-173195800	Enhancers	Stomach Mucosa	stomach
16	chr2:173193800-173196000	Enhancers	Fetal Intestine Large	intestine
17	chr2:173193800-173196000	Enhancers	Pancreas	Pancrea
18	chr2:173193800-173196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:173194000-173194600	Weak transcription	Right Atrium	heart
20	chr2:173194000-173195000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:173194000-173195400	Enhancers	Fetal Thymus	thymus
22	chr2:173194000-173195600	Enhancers	HepG2	liver
23	chr2:173194000-173195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:173194000-173196200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:173194000-173196200	Enhancers	Fetal Intestine Small	intestine
26	chr2:173194000-173197600	Enhancers	Thymus	Thymus

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