Variant report

Variant	rs2302808
Chromosome Location	chr2:64139834-64139835
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10183479	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11558741	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11674020	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676710	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11683408	0.90[ASN][1000 genomes]
rs11686956	0.80[ASN][1000 genomes]
rs11691987	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693906	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11694253	0.82[ASN][1000 genomes]
rs11695421	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713498	0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12996866	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13018690	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13431781	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1440002	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17562177	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17562423	0.88[ASN][1000 genomes]
rs17619753	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193031	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2439183	0.90[ASN][1000 genomes]
rs2969395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs329478	0.90[ASN][1000 genomes]
rs329488	0.82[ASN][1000 genomes]
rs329502	0.85[CHB][hapmap]
rs34122334	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34765999	0.90[ASN][1000 genomes]
rs34777730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs35002211	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336851	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35474183	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35480874	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35697586	0.90[ASN][1000 genomes]
rs35960986	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36033991	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36123537	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233930	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4538187	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671071	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671073	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs56904032	0.90[ASN][1000 genomes]
rs6546029	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546030	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546032	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546033	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546035	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66980330	0.98[ASN][1000 genomes]
rs6710763	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6715992	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67308158	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6731508	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6732746	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755646	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67615384	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67765474	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68117986	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72808243	0.98[ASN][1000 genomes]
rs72893103	0.90[ASN][1000 genomes]
rs74181291	0.80[ASN][1000 genomes]
rs7590399	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
3	chr2:64118200-64153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:64129600-64153200	Weak transcription	Thymus	Thymus
5	chr2:64129600-64153600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:64129600-64153600	Weak transcription	Aorta	Aorta
7	chr2:64129600-64153600	Weak transcription	Pancreas	Pancrea
8	chr2:64129600-64154000	Weak transcription	Colonic Mucosa	Colon
9	chr2:64129600-64164000	Weak transcription	NHLF	lung
10	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
11	chr2:64129800-64154200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:64130000-64153200	Weak transcription	Gastric	stomach
13	chr2:64130000-64153600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:64130000-64153800	Weak transcription	Esophagus	oesophagus
15	chr2:64130200-64149200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:64130200-64153200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:64130200-64153600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:64130200-64153600	Weak transcription	Ovary	ovary
19	chr2:64130200-64153800	Weak transcription	Fetal Stomach	stomach
20	chr2:64130400-64144400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:64130400-64155000	Strong transcription	HepG2	liver
22	chr2:64130400-64167600	Weak transcription	Fetal Heart	heart
23	chr2:64130400-64168400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
25	chr2:64130600-64140800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:64130600-64144400	Weak transcription	HMEC	breast
27	chr2:64130600-64153600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:64130600-64168000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:64130800-64174800	Weak transcription	Stomach Mucosa	stomach
30	chr2:64131000-64154200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:64131400-64155000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:64131600-64141400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:64132000-64154200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:64132200-64147600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:64132600-64143800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:64132600-64147800	Strong transcription	Liver	Liver
37	chr2:64132800-64146000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:64132800-64147400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:64133600-64140400	Strong transcription	Fetal Muscle Leg	muscle
40	chr2:64133600-64144200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:64133800-64147600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:64133800-64149800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:64134000-64141000	Weak transcription	K562	blood
44	chr2:64134000-64143000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:64134000-64147800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:64134000-64153800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:64134000-64153800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:64134000-64154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:64134200-64153600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:64134800-64149000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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