Variant report

Variant	rs1362797
Chromosome Location	chr2:64128592-64128593
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	chr2:64126493..64128913-chr2:64128922..64131491,2	K562	blood:

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

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

rs_ID	r²[population]
rs10171008	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10187013	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs10201844	0.89[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10207847	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11125985	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11125986	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682520	0.80[EUR][1000 genomes]
rs12611543	0.80[ASN][1000 genomes]
rs12612549	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12612596	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12613707	0.84[EUR][1000 genomes]
rs12615049	0.80[ASN][1000 genomes]
rs13006124	0.84[CHB][hapmap]
rs13384707	0.95[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs1440004	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17619717	0.84[CHB][hapmap]
rs2054119	0.83[EUR][1000 genomes]
rs2080649	0.91[EUR][1000 genomes]
rs2165210	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2302809	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2901636	0.91[EUR][1000 genomes]
rs329477	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs329486	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36042418	0.81[EUR][1000 genomes]
rs3980405	0.92[EUR][1000 genomes]
rs4072113	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs41291181	0.80[EUR][1000 genomes]
rs4293553	1.00[ASW][hapmap]
rs4359637	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4399712	0.82[EUR][1000 genomes]
rs4671532	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6546027	0.83[EUR][1000 genomes]
rs6546038	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546039	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546040	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546042	0.82[ASN][1000 genomes]
rs6546043	0.82[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs6546046	0.95[CEU][hapmap];0.95[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6705192	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6716322	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6716558	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6724024	0.85[ASN][1000 genomes]
rs6726257	0.83[CHB][hapmap]
rs6727120	0.87[EUR][1000 genomes]
rs6736556	0.80[ASN][1000 genomes]
rs6737855	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6746875	0.94[EUR][1000 genomes]
rs6757168	0.87[ASN][1000 genomes]
rs7420396	0.86[ASN][1000 genomes]
rs7560265	0.82[ASN][1000 genomes]
rs7589241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7596262	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7597935	0.84[CHB][hapmap]
rs7602952	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7608885	0.89[EUR][1000 genomes]
rs9309356	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs998043	0.81[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	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64083000-64129200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:64103800-64130400	Weak transcription	Stomach Mucosa	stomach
3	chr2:64107200-64130000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:64107400-64129600	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr2:64107600-64128800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:64107600-64129200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:64109400-64129000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:64109800-64128600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:64112800-64129600	Strong transcription	NH-A	brain
10	chr2:64114000-64128800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:64114000-64129200	Weak transcription	Fetal Brain Male	brain
12	chr2:64114000-64130600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
14	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
15	chr2:64115800-64129200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:64116000-64128800	Weak transcription	Aorta	Aorta
17	chr2:64116000-64129200	Weak transcription	Spleen	Spleen
18	chr2:64116400-64129200	Weak transcription	Pancreas	Pancrea
19	chr2:64116800-64138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:64118200-64153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:64118400-64128600	Weak transcription	Esophagus	oesophagus
22	chr2:64118400-64137800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:64119200-64130200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:64119200-64130200	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:64119200-64132800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:64119400-64133200	Weak transcription	Brain Anterior Caudate	brain
27	chr2:64119600-64128600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:64119600-64129400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:64119600-64129400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:64119600-64129800	Strong transcription	HepG2	liver
31	chr2:64119600-64139600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:64119800-64129200	Weak transcription	Fetal Brain Female	brain
33	chr2:64120800-64128600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:64121000-64129800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:64121600-64128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:64121600-64129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:64122000-64129200	Weak transcription	NHEK	skin
38	chr2:64122600-64129600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:64122800-64129400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:64123000-64128600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:64123200-64128600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:64123800-64129200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:64124600-64129200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:64124600-64129200	Weak transcription	Hela-S3	cervix
45	chr2:64124800-64128600	Weak transcription	NHLF	lung
46	chr2:64124800-64129200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr2:64125200-64128600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:64125200-64129000	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:64125200-64129400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:64125200-64129600	Strong transcription	Fetal Intestine Large	intestine

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