Variant report

Variant	rs11676512
Chromosome Location	chr2:53935525-53935526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10490466	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490467	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10490469	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125516	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676319	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692732	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17520680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521418	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17578919	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17580080	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34498147	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273260	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56278932	0.82[EUR][1000 genomes]
rs58445692	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7349309	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1011449	chr2:53894529-53947781	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1009107	chr2:53896767-53946913	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1014949	chr2:53896767-53947781	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1011400	chr2:53899956-53947781	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1844655	chr2:53929855-53972693	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53889000-53935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:53896800-53936600	Weak transcription	Aorta	Aorta
3	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:53900600-53935600	Weak transcription	K562	blood
5	chr2:53900800-53936400	Weak transcription	NH-A	brain
6	chr2:53900800-53936800	Weak transcription	NHLF	lung
7	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
8	chr2:53910000-53941600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:53911600-53936200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:53912400-53936200	Weak transcription	Gastric	stomach
13	chr2:53913000-53936200	Weak transcription	Spleen	Spleen
14	chr2:53917600-53936200	Weak transcription	Esophagus	oesophagus
15	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
16	chr2:53919000-53935800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:53921800-53935800	Weak transcription	Brain Substantia Nigra	brain
18	chr2:53925000-53936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:53925400-53935800	Weak transcription	A549	lung
20	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
21	chr2:53926000-53935800	Weak transcription	HSMMtube	muscle
22	chr2:53926800-53936000	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:53927000-53935800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:53927600-53935800	Weak transcription	Left Ventricle	heart
25	chr2:53927600-53936400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:53927600-53937200	Weak transcription	HSMM	muscle
27	chr2:53927600-53960200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:53930000-53936200	Weak transcription	Osteobl	bone
29	chr2:53931400-53935600	Weak transcription	NHEK	skin
30	chr2:53932000-53936000	Weak transcription	Stomach Mucosa	stomach
31	chr2:53932800-53935600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:53933200-53936000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:53933600-53935600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:53933600-53935800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:53933600-53936200	Strong transcription	Brain Anterior Caudate	brain
36	chr2:53933600-53936200	Strong transcription	Fetal Stomach	stomach
37	chr2:53933600-53936200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:53933800-53935800	Strong transcription	Primary T cells from cord blood	blood
39	chr2:53933800-53935800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:53933800-53935800	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:53933800-53937200	Strong transcription	Brain Angular Gyrus	brain
42	chr2:53933800-53938000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:53933800-53944000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:53934000-53935800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:53934000-53935800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:53934000-53935800	Strong transcription	Ovary	ovary
47	chr2:53934000-53936000	Strong transcription	Liver	Liver
48	chr2:53934000-53936200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:53934000-53936200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:53934000-53936200	Strong transcription	Brain Inferior Temporal Lobe	brain

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