Variant report

Variant	rs11694795
Chromosome Location	chr2:63642415-63642416
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10182889	0.91[ASN][1000 genomes]
rs10191163	0.86[ASN][1000 genomes]
rs10195862	0.86[ASN][1000 genomes]
rs1022352	0.91[ASN][1000 genomes]
rs1033253	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11125968	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11687234	0.91[ASN][1000 genomes]
rs11694892	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465146	0.91[ASN][1000 genomes]
rs12470121	0.91[ASN][1000 genomes]
rs12473110	0.89[ASN][1000 genomes]
rs12473300	0.91[ASN][1000 genomes]
rs12478262	0.91[ASN][1000 genomes]
rs12987806	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12995715	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12996604	0.87[ASN][1000 genomes]
rs13020863	0.91[ASN][1000 genomes]
rs1568174	0.90[ASN][1000 genomes]
rs1807843	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810333	0.91[ASN][1000 genomes]
rs1878505	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1966112	0.91[ASN][1000 genomes]
rs2028886	0.93[ASN][1000 genomes]
rs2034270	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2138793	0.91[ASN][1000 genomes]
rs2138794	0.87[ASN][1000 genomes]
rs2176414	0.91[ASN][1000 genomes]
rs2421888	0.91[ASN][1000 genomes]
rs2901581	0.85[ASN][1000 genomes]
rs35516797	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754539	0.96[ASN][1000 genomes]
rs4471880	0.90[ASN][1000 genomes]
rs4671501	0.91[ASN][1000 genomes]
rs4671502	0.91[ASN][1000 genomes]
rs4671504	0.91[ASN][1000 genomes]
rs4671506	0.90[ASN][1000 genomes]
rs4671507	0.91[ASN][1000 genomes]
rs62177834	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546003	0.91[ASN][1000 genomes]
rs6745644	0.91[ASN][1000 genomes]
rs6756605	0.91[ASN][1000 genomes]
rs6756696	0.91[ASN][1000 genomes]
rs6761544	0.85[ASN][1000 genomes]
rs72883636	0.84[ASN][1000 genomes]
rs7598973	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9749852	0.85[ASN][1000 genomes]
rs9749863	0.85[ASN][1000 genomes]
rs9749870	0.91[ASN][1000 genomes]
rs9751845	0.84[ASN][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	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1002047	chr2:63584797-63648782	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874234	chr2:63606001-63666590	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3382119	chr2:63634350-63660437	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63597800-63649200	Weak transcription	Fetal Lung	lung
2	chr2:63622200-63645400	Weak transcription	Liver	Liver
3	chr2:63626800-63644000	Weak transcription	Gastric	stomach
4	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
5	chr2:63628600-63651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:63629600-63644400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:63631600-63644000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:63631600-63652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:63631800-63643200	Weak transcription	Dnd41	blood
10	chr2:63631800-63643800	Weak transcription	Pancreas	Pancrea
11	chr2:63631800-63645000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:63631800-63652400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:63631800-63654600	Weak transcription	Primary T cells from cord blood	blood
14	chr2:63631800-63661600	Weak transcription	Ovary	ovary
15	chr2:63631800-63665600	Weak transcription	Primary B cells from cord blood	blood
16	chr2:63631800-63675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:63631800-63677200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
19	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
20	chr2:63632000-63665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:63633000-63649200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:63634200-63665800	Weak transcription	Fetal Heart	heart
23	chr2:63634400-63652000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:63636000-63643800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:63636000-63651600	Weak transcription	Fetal Stomach	stomach
26	chr2:63637800-63652200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:63640800-63643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:63641800-63642600	Strong transcription	Adipose Nuclei	Adipose
29	chr2:63641800-63642800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:63642400-63643000	Strong transcription	Left Ventricle	heart

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