Variant report

Variant	rs17028239
Chromosome Location	chr2:64174885-64174886
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	chr2:64174430..64176440-chr2:64194001..64195513,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10496104	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884555	1.00[ASN][1000 genomes]
rs11896894	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11899693	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431437	1.00[CHB][hapmap]
rs17028275	1.00[ASN][1000 genomes]
rs17028316	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17028343	0.94[AFR][1000 genomes]
rs17028348	0.89[AFR][1000 genomes]
rs17028356	0.89[AFR][1000 genomes]
rs2033864	1.00[ASN][1000 genomes]
rs35693031	0.82[AFR][1000 genomes]
rs36085609	0.84[AFR][1000 genomes]
rs3924029	0.81[EUR][1000 genomes]
rs4277507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4470330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517960	1.00[ASN][1000 genomes]
rs55977137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56053068	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56155077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56674285	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56677212	0.91[AFR][1000 genomes]
rs56683028	1.00[ASN][1000 genomes]
rs56978264	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57085982	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57101313	0.91[AFR][1000 genomes]
rs57202709	0.91[AFR][1000 genomes]
rs57936760	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58074696	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58198691	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58297806	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58732522	1.00[ASN][1000 genomes]
rs58889204	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58982089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59156176	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59335889	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59540641	0.81[EUR][1000 genomes]
rs59736629	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60044466	1.00[ASN][1000 genomes]
rs60350159	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60847776	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61383573	0.92[AFR][1000 genomes]
rs61389158	0.88[AFR][1000 genomes]
rs61486417	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62136393	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62136397	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62136398	0.86[AFR][1000 genomes]
rs62136400	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62136402	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136407	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136423	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136425	1.00[ASN][1000 genomes]
rs62136429	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62136446	0.91[AMR][1000 genomes]
rs62136447	1.00[ASN][1000 genomes]
rs62136457	1.00[ASN][1000 genomes]
rs62136458	1.00[ASN][1000 genomes]
rs62136459	1.00[ASN][1000 genomes]
rs73935051	0.90[AFR][1000 genomes]
rs7420692	1.00[ASN][1000 genomes]
rs7558570	0.83[AFR][1000 genomes]
rs7606341	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv874236	chr2:64154215-64179235	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	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:117 , 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	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:64141400-64189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:64142800-64189200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:64147600-64178000	Weak transcription	A549	lung
12	chr2:64154400-64176800	Weak transcription	Colonic Mucosa	Colon
13	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
14	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
15	chr2:64154800-64175000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:64154800-64175200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:64154800-64177400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
19	chr2:64159200-64181400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:64159400-64175600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:64162800-64183600	Weak transcription	HSMMtube	muscle
24	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
25	chr2:64165600-64175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:64165600-64177000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:64165600-64193600	Weak transcription	NHLF	lung
28	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:64166000-64175000	Weak transcription	Lung	lung
30	chr2:64166800-64202600	Weak transcription	HMEC	breast
31	chr2:64167400-64178000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:64168200-64175000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:64168400-64198000	Weak transcription	Fetal Heart	heart
34	chr2:64168600-64177000	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:64168600-64188000	Weak transcription	NH-A	brain
36	chr2:64168600-64202600	Weak transcription	Esophagus	oesophagus
37	chr2:64168600-64202600	Weak transcription	K562	blood
38	chr2:64168800-64175000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:64168800-64177000	Weak transcription	NHDF-Ad	bronchial
40	chr2:64168800-64178000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:64168800-64192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:64168800-64195000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:64168800-64204800	Weak transcription	Psoas Muscle	Psoas
44	chr2:64169000-64175000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:64169000-64175200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:64169000-64178400	Weak transcription	Brain Anterior Caudate	brain
47	chr2:64169000-64189200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
49	chr2:64169200-64175000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:64169200-64175000	Weak transcription	Brain Hippocampus Middle	brain

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