Variant report

Variant	rs6757168
Chromosome Location	chr2:64194247-64194248
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	chr2:64193653..64196414-chr2:64208633..64211080,2	K562	blood:
2	chr2:64174430..64176440-chr2:64194001..64195513,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10171008	0.99[ASN][1000 genomes]
rs10201844	0.84[CHB][hapmap];0.90[MEX][hapmap]
rs10207847	0.88[ASN][1000 genomes]
rs11125986	0.87[ASN][1000 genomes]
rs12611543	0.93[ASN][1000 genomes]
rs12612549	0.89[CHB][hapmap];0.86[CHD][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.81[ASN][1000 genomes]
rs12615049	0.93[ASN][1000 genomes]
rs1362797	0.87[ASN][1000 genomes]
rs1440004	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2080649	0.83[ASN][1000 genomes]
rs2165210	0.96[ASN][1000 genomes]
rs2302809	0.88[ASN][1000 genomes]
rs2901636	0.85[ASN][1000 genomes]
rs329477	0.91[ASN][1000 genomes]
rs329486	0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs3980405	0.83[ASN][1000 genomes]
rs4072113	0.90[MEX][hapmap]
rs6546038	0.89[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.80[ASN][1000 genomes]
rs6546039	0.95[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.86[ASN][1000 genomes]
rs6546040	0.87[ASN][1000 genomes]
rs6546042	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546043	0.95[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6546046	0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs6705192	0.88[ASN][1000 genomes]
rs6716322	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6716558	0.81[ASN][1000 genomes]
rs6724024	0.97[ASN][1000 genomes]
rs6727120	0.81[ASN][1000 genomes]
rs6736556	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6737855	0.84[CHB][hapmap]
rs6746875	0.87[AMR][1000 genomes]
rs7420396	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7560265	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7589241	0.95[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs7596262	0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7602952	0.93[ASN][1000 genomes]
rs7608885	0.83[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	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
3	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
4	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
7	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
8	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
9	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
12	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:64166800-64202600	Weak transcription	HMEC	breast
14	chr2:64168400-64198000	Weak transcription	Fetal Heart	heart
15	chr2:64168600-64202600	Weak transcription	Esophagus	oesophagus
16	chr2:64168600-64202600	Weak transcription	K562	blood
17	chr2:64168800-64195000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:64168800-64204800	Weak transcription	Psoas Muscle	Psoas
19	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:64173600-64202800	Weak transcription	Fetal Brain Female	brain
21	chr2:64175200-64203000	Weak transcription	Thymus	Thymus
22	chr2:64175600-64213000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:64175800-64196200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:64175800-64196400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:64175800-64197800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:64175800-64199600	Weak transcription	Fetal Stomach	stomach
27	chr2:64175800-64202800	Weak transcription	Gastric	stomach
28	chr2:64176000-64197600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:64176000-64202600	Weak transcription	Lung	lung
30	chr2:64176000-64204600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:64176200-64198000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:64176200-64205400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:64176400-64205000	Weak transcription	Brain Germinal Matrix	brain
35	chr2:64177200-64197600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:64177600-64196200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:64177600-64200800	Weak transcription	Fetal Kidney	kidney
38	chr2:64177600-64204600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:64177600-64212600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:64177800-64195600	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:64178200-64211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:64178800-64195600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:64178800-64202200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:64178800-64202600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:64179200-64202600	Weak transcription	Ovary	ovary
46	chr2:64183800-64204400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:64184000-64205200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:64184200-64198000	Weak transcription	HSMMtube	muscle
49	chr2:64185600-64203800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell

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