Variant report

Variant	rs13392004
Chromosome Location	chr2:48641829-48641830
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48633890..48635428-chr2:48640629..48643120,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10153773	0.91[JPT][hapmap]
rs10174717	0.83[AMR][1000 genomes]
rs10186237	0.93[CEU][hapmap];0.83[JPT][hapmap]
rs10199431	0.93[CEU][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10208627	0.87[AMR][1000 genomes]
rs10454133	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11676168	0.92[CEU][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes]
rs11680916	0.83[JPT][hapmap]
rs11682044	0.85[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs11682931	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11685861	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11690690	0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12105983	0.87[AMR][1000 genomes]
rs13385535	0.83[AMR][1000 genomes]
rs13388291	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs13429377	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13432998	0.81[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes]
rs28841370	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4267555	0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4274640	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4290706	0.83[EUR][1000 genomes]
rs4344965	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4411759	0.92[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes]
rs4547573	0.89[CEU][hapmap]
rs4641990	0.87[JPT][hapmap]
rs4953572	0.82[YRI][hapmap]
rs56365822	0.82[ASN][1000 genomes]
rs57668696	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58978223	0.80[ASN][1000 genomes]
rs59761994	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60042255	0.82[ASN][1000 genomes]
rs61303367	0.80[ASN][1000 genomes]
rs62136987	0.81[AMR][1000 genomes]
rs62137002	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62137003	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62137015	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62137019	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62137041	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6545027	0.89[CEU][hapmap];0.87[JPT][hapmap]
rs6545030	0.96[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6545034	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6545035	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6545036	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6545039	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6712029	0.96[CEU][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6735288	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6743757	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6749773	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6757206	0.81[AMR][1000 genomes]
rs72818493	0.83[EUR][1000 genomes]
rs72820405	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72820454	0.82[ASN][1000 genomes]
rs7562069	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7562816	0.80[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7566239	0.80[JPT][hapmap]
rs7576964	0.83[JPT][hapmap]
rs7579932	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7600794	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7606104	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv518718	chr2:48624007-48650308	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48634600-48642200	Weak transcription	Small Intestine	intestine
2	chr2:48637200-48642200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:48637800-48642400	Weak transcription	A549	lung
4	chr2:48638200-48642200	Weak transcription	Left Ventricle	heart
5	chr2:48638400-48642400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:48638400-48643400	Weak transcription	Gastric	stomach
7	chr2:48639200-48642200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:48639400-48642200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:48639600-48642000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:48639600-48645200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:48639600-48647400	Enhancers	Liver	Liver
12	chr2:48640000-48642200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:48640000-48642200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:48640000-48642200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:48640000-48643600	Enhancers	Fetal Intestine Large	intestine
16	chr2:48640000-48646200	Enhancers	Fetal Intestine Small	intestine
17	chr2:48640400-48642200	Enhancers	Adipose Nuclei	Adipose
18	chr2:48640400-48642200	Weak transcription	Fetal Lung	lung
19	chr2:48640400-48642200	Weak transcription	Spleen	Spleen
20	chr2:48640400-48642400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:48640400-48642800	Weak transcription	Fetal Kidney	kidney
22	chr2:48640400-48647600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:48640400-48647600	Weak transcription	Ovary	ovary
24	chr2:48640600-48642000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:48640600-48642000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:48640600-48642000	Weak transcription	NHDF-Ad	bronchial
27	chr2:48640600-48642200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:48640600-48642200	Weak transcription	Right Atrium	heart
29	chr2:48640600-48647800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:48640800-48642000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:48640800-48642000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:48640800-48642200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:48640800-48642200	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:48640800-48643400	Weak transcription	Fetal Stomach	stomach
35	chr2:48641000-48642000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:48641000-48642200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:48641000-48642200	Weak transcription	Right Ventricle	heart
38	chr2:48641000-48647400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:48641200-48642000	Enhancers	Brain Hippocampus Middle	brain
40	chr2:48641400-48642000	Enhancers	Brain Substantia Nigra	brain
41	chr2:48641400-48642200	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:48641400-48642600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:48641400-48643600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:48641400-48643800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:48641600-48642000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:48641800-48642000	Weak transcription	Brain Anterior Caudate	brain
47	chr2:48641800-48642000	Enhancers	Brain Germinal Matrix	brain
48	chr2:48641800-48642000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:48641800-48642200	Enhancers	Brain Angular Gyrus	brain
50	chr2:48641800-48642400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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