Variant report

Variant	rs13394206
Chromosome Location	chr2:210808344-210808345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10166289	1.00[ASN][1000 genomes]
rs10170096	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170116	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178327	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193560	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202111	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035090	1.00[EUR][1000 genomes]
rs13389681	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406181	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409845	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426807	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13426959	1.00[EUR][1000 genomes]
rs16843943	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843954	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843966	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843970	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843980	1.00[EUR][1000 genomes]
rs2215670	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587774	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56947775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59268468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435545	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435547	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705019	1.00[ASN][1000 genomes]
rs6711347	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724144	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737494	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741654	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078966	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078987	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078988	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078990	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080863	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557496	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558363	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561328	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572197	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575283	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575600	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584962	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593770	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv998029	chr2:210751692-210838759	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210796200-210812800	Weak transcription	Fetal Brain Male	brain
2	chr2:210797200-210822800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:210799600-210813600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:210804800-210810200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:210805200-210808800	Enhancers	Fetal Stomach	stomach
6	chr2:210806600-210825400	Weak transcription	Fetal Brain Female	brain
7	chr2:210806800-210825400	Weak transcription	Brain Anterior Caudate	brain
8	chr2:210807000-210818400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:210807000-210825000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:210807000-210866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:210807600-210808400	Enhancers	Colon Smooth Muscle	Colon
12	chr2:210807600-210808800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:210807600-210808800	Enhancers	NHEK	skin
14	chr2:210807800-210808400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr2:210807800-210808800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:210807800-210808800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:210808000-210808400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:210808000-210808400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:210808000-210808600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:210808000-210808600	Enhancers	Fetal Lung	lung
21	chr2:210808000-210808600	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:210808000-210808800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:210808000-210808800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:210808000-210808800	Enhancers	Fetal Muscle Leg	muscle
25	chr2:210808000-210808800	Enhancers	Pancreas	Pancrea
26	chr2:210808000-210808800	Enhancers	Stomach Smooth Muscle	stomach
27	chr2:210808200-210808600	Enhancers	HUVEC	blood vessel
28	chr2:210808200-210809200	Strong transcription	Brain Angular Gyrus	brain

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