Variant report

Variant	rs10497516
Chromosome Location	chr2:179252345-179252346
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	chr2:179251332..179253441-chr2:179314386..179317355,2	K562	blood:

Variant related genes	Relation type
ENSG00000204311	Chromatin interaction
ENSG00000180228	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10497515	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12612917	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12613303	1.00[CEU][hapmap]
rs12615980	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12616943	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12619401	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16866323	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2195070	1.00[CEU][hapmap]
rs2276619	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276620	1.00[CEU][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731756	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3731758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4491754	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55714261	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55821514	0.86[ASN][1000 genomes]
rs56065555	0.94[EUR][1000 genomes]
rs56233214	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56357262	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6734446	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6736173	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757474	1.00[CEU][hapmap]
rs6757481	1.00[CEU][hapmap]
rs73034339	0.94[EUR][1000 genomes]
rs73034346	1.00[EUR][1000 genomes]
rs73034359	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73034362	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73034364	1.00[EUR][1000 genomes]
rs73034377	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7584420	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:179201800-179268200	Weak transcription	HSMM	muscle
3	chr2:179209200-179253000	Weak transcription	Esophagus	oesophagus
4	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
5	chr2:179225000-179257800	Weak transcription	Lung	lung
6	chr2:179226600-179257200	Weak transcription	Gastric	stomach
7	chr2:179232000-179254200	Weak transcription	Hela-S3	cervix
8	chr2:179240000-179258200	Weak transcription	NHEK	skin
9	chr2:179240200-179256800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:179240800-179253800	Weak transcription	Right Ventricle	heart
11	chr2:179241800-179262600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:179242200-179254600	Weak transcription	Ovary	ovary
13	chr2:179242200-179258600	Weak transcription	Brain Germinal Matrix	brain
14	chr2:179242400-179253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:179246000-179256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:179246600-179257200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:179247000-179254600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:179247200-179253600	Strong transcription	Liver	Liver
19	chr2:179247800-179254600	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr2:179248000-179255000	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:179248200-179257200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:179248600-179254400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:179249000-179253400	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:179249000-179254600	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:179249000-179262600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:179249000-179269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:179249200-179253200	Weak transcription	HMEC	breast
28	chr2:179249400-179252600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:179249400-179255000	Weak transcription	Fetal Brain Male	brain
30	chr2:179249400-179259400	Weak transcription	Left Ventricle	heart
31	chr2:179249600-179253200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:179249600-179254000	Weak transcription	Brain Anterior Caudate	brain
33	chr2:179249600-179255000	Weak transcription	Psoas Muscle	Psoas
34	chr2:179249600-179259800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:179249600-179264000	Weak transcription	Aorta	Aorta
36	chr2:179249800-179254800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:179250400-179252400	Enhancers	Fetal Intestine Small	intestine
38	chr2:179250800-179253600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:179250800-179254400	Weak transcription	HSMMtube	muscle
40	chr2:179250800-179255000	Weak transcription	Brain Angular Gyrus	brain
41	chr2:179250800-179266000	Weak transcription	K562	blood
42	chr2:179251000-179268600	Weak transcription	NH-A	brain
43	chr2:179251400-179252400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:179251400-179253000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:179251800-179252400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:179252000-179261000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:179252200-179252600	Weak transcription	Fetal Brain Female	brain
48	chr2:179252200-179253000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:179252200-179257000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:179252200-179257000	Weak transcription	Osteobl	bone

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