Variant report

Variant	rs1515961
Chromosome Location	chr2:233623763-233623764
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10211596	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs10933406	0.83[JPT][hapmap]
rs1104764	0.83[JPT][hapmap]
rs11535	0.83[JPT][hapmap]
rs12105766	0.83[JPT][hapmap]
rs13029336	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1973675	0.86[JPT][hapmap]
rs2675954	0.83[JPT][hapmap]
rs2675968	0.83[JPT][hapmap]
rs283470	0.83[JPT][hapmap]
rs283472	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35853577	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4144796	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4973564	0.83[JPT][hapmap]
rs6437071	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6704763	0.83[JPT][hapmap]
rs6717048	0.83[JPT][hapmap]
rs6733495	0.83[JPT][hapmap]
rs709937	0.83[JPT][hapmap]
rs737027	0.83[JPT][hapmap]
rs748002	0.83[JPT][hapmap]
rs7557607	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7595118	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs778370	0.83[JPT][hapmap]
rs938569	0.83[JPT][hapmap]

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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1515961	C2orf82	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:233571200-233627400	Weak transcription	Gastric	stomach
3	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
5	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
6	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
7	chr2:233597200-233627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:233602400-233633200	Weak transcription	Aorta	Aorta
9	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:233606800-233633200	Weak transcription	Stomach Mucosa	stomach
11	chr2:233606800-233636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:233609200-233630800	Strong transcription	HepG2	liver
13	chr2:233611000-233628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:233611400-233623800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:233612000-233631000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:233612000-233634000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:233612000-233634000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:233612000-233640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:233612000-233644600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:233612200-233623800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:233612200-233633800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:233612200-233634000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:233612200-233634400	Strong transcription	Fetal Thymus	thymus
25	chr2:233612200-233638400	Strong transcription	Placenta	Placenta
26	chr2:233612600-233637200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:233613600-233627400	Weak transcription	Ovary	ovary
28	chr2:233613800-233635600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:233614000-233628800	Weak transcription	Fetal Brain Male	brain
30	chr2:233614000-233636800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:233614200-233627000	Weak transcription	Brain Angular Gyrus	brain
32	chr2:233614400-233626200	Weak transcription	NHEK	skin
33	chr2:233614400-233632800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:233614600-233643600	Weak transcription	Small Intestine	intestine
35	chr2:233615000-233626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:233615800-233626000	Weak transcription	Colonic Mucosa	Colon
37	chr2:233615800-233627200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:233615800-233627600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:233616200-233626800	Weak transcription	Thymus	Thymus
40	chr2:233616200-233627000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:233616200-233627400	Weak transcription	Spleen	Spleen
42	chr2:233616800-233628400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:233617000-233627600	Weak transcription	NHLF	lung
44	chr2:233617000-233636600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:233617200-233625000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:233617200-233626000	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:233617200-233626200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:233617200-233627400	Weak transcription	Fetal Kidney	kidney
49	chr2:233617200-233628800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:233617400-233627400	Weak transcription	Brain Anterior Caudate	brain

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