Variant report

Variant	rs3813253
Chromosome Location	chr2:179200714-179200715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179192053..179195565-chr2:179199855..179202518,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10181771	0.82[ASN][1000 genomes]
rs10497513	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10497514	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930829	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11892094	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12151447	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs12464536	0.88[ASN][1000 genomes]
rs12467053	0.87[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs12471790	0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12474802	0.88[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12474844	0.87[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12474919	0.88[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12478760	0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12479027	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12479281	0.87[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12618595	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs12618660	0.81[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12620577	0.87[ASN][1000 genomes]
rs12620729	0.87[ASN][1000 genomes]
rs13402976	0.83[YRI][hapmap]
rs1368905	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1368907	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs1434082	0.88[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1434083	0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1434084	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1434086	0.88[ASN][1000 genomes]
rs1434089	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866256	0.85[ASN][1000 genomes]
rs16866271	0.87[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs16866273	0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs16866275	0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs16866281	0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1812550	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1836203	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1836205	0.89[EUR][1000 genomes]
rs1982104	0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs334602	0.81[CHB][hapmap]
rs334603	0.81[CHB][hapmap]
rs334611	0.81[CHB][hapmap]
rs334613	0.81[CHB][hapmap]
rs3813252	0.88[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4422196	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4894011	0.92[ASN][1000 genomes]
rs4894014	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55989867	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56148541	0.88[ASN][1000 genomes]
rs56366027	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6433722	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753246	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6754517	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6761421	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718650	0.86[ASN][1000 genomes]
rs718651	0.87[ASN][1000 genomes]
rs7559699	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7559711	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7572355	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964165	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
2	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
3	chr2:179189200-179201200	Weak transcription	Ovary	ovary
4	chr2:179189400-179201200	Weak transcription	Fetal Brain Male	brain
5	chr2:179189800-179217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:179193000-179201400	Weak transcription	NH-A	brain
7	chr2:179193000-179201800	Weak transcription	Fetal Kidney	kidney
8	chr2:179193000-179214600	Weak transcription	Fetal Intestine Large	intestine
9	chr2:179193200-179201000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:179193200-179201400	Weak transcription	Fetal Brain Female	brain
11	chr2:179193200-179210400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:179193200-179216200	Weak transcription	Adipose Nuclei	Adipose
13	chr2:179193400-179203400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:179193400-179204800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:179193400-179215000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:179194600-179229400	Weak transcription	K562	blood
17	chr2:179195400-179214600	Weak transcription	Left Ventricle	heart
18	chr2:179195400-179229000	Weak transcription	Brain Substantia Nigra	brain
19	chr2:179195600-179214200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:179195600-179214800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:179196000-179201000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:179196200-179207000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:179196400-179201200	Weak transcription	Brain Germinal Matrix	brain
24	chr2:179196600-179201000	Weak transcription	Brain Angular Gyrus	brain
25	chr2:179196600-179204600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:179196600-179213600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:179197000-179200800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:179197000-179201000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:179197000-179201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:179197000-179209000	Weak transcription	Esophagus	oesophagus
31	chr2:179197200-179201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:179197200-179201000	Weak transcription	Gastric	stomach
33	chr2:179197800-179201200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:179197800-179204200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:179198400-179227400	Weak transcription	NHEK	skin
36	chr2:179199000-179201000	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:179199000-179201400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:179199200-179201600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:179199200-179207400	Weak transcription	Pancreas	Pancrea
41	chr2:179199200-179214400	Weak transcription	Lung	lung
42	chr2:179199200-179214600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:179199400-179201000	Weak transcription	Right Ventricle	heart
44	chr2:179199600-179201000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:179199600-179201200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:179199600-179201400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
48	chr2:179199800-179201000	Weak transcription	HSMMtube	muscle
49	chr2:179200000-179202600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:179200000-179205600	Strong transcription	HMEC	breast

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