Variant report

Variant	rs17221346
Chromosome Location	chr2:172340419-172340420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172332790..172336030-chr2:172339156..172342028,3	K562	blood:
2	chr2:172339539..172341953-chr2:172348003..172351874,3	K562	blood:
3	chr2:172340109..172342065-chr2:172370654..172373620,2	K562	blood:

Variant related genes	Relation type
ENSG00000234061	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10490604	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10515933	0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs10930476	0.90[ASN][1000 genomes]
rs12151641	0.80[EUR][1000 genomes]
rs13384194	0.95[ASN][1000 genomes]
rs1476111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17220419	0.92[CHD][hapmap];0.87[GIH][hapmap];0.85[TSI][hapmap]
rs17220608	0.80[EUR][1000 genomes]
rs17220657	0.80[EUR][1000 genomes]
rs17220699	0.80[EUR][1000 genomes]
rs17220734	0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs17221367	0.80[EUR][1000 genomes]
rs17221619	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17286415	0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs17286660	0.80[EUR][1000 genomes]
rs1861899	0.81[EUR][1000 genomes]
rs1981788	0.80[EUR][1000 genomes]
rs2356781	0.80[EUR][1000 genomes]
rs28420126	0.82[EUR][1000 genomes]
rs28742013	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36112363	0.80[EUR][1000 genomes]
rs3731981	0.80[EUR][1000 genomes]
rs3731982	1.00[CHD][hapmap];0.90[GIH][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs3731983	0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs3795998	0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs3821084	0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs4417688	0.80[EUR][1000 genomes]
rs4458186	0.90[GIH][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs4496302	0.81[EUR][1000 genomes]
rs4522571	0.92[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs4667689	0.87[ASN][1000 genomes]
rs4668385	0.81[EUR][1000 genomes]
rs4668386	0.80[EUR][1000 genomes]
rs4668387	0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs55999882	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57099324	0.81[EUR][1000 genomes]
rs58182652	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58267868	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58536060	0.81[EUR][1000 genomes]
rs60439518	0.80[EUR][1000 genomes]
rs62183497	0.80[EUR][1000 genomes]
rs62183498	0.80[EUR][1000 genomes]
rs62183499	0.80[EUR][1000 genomes]
rs62183502	0.80[EUR][1000 genomes]
rs62183503	0.80[EUR][1000 genomes]
rs62183504	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62183506	0.80[EUR][1000 genomes]
rs62183537	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62183540	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6433291	0.93[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433292	0.83[JPT][hapmap]
rs6718740	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6720250	0.80[EUR][1000 genomes]
rs6740733	0.80[EUR][1000 genomes]
rs6751956	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7572334	0.81[EUR][1000 genomes]
rs7594714	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7598137	0.87[GIH][hapmap]
rs7600478	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7606658	0.81[EUR][1000 genomes]
rs9678149	0.80[EUR][1000 genomes]
rs9789380	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9789572	0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:172298600-172341400	Weak transcription	NHLF	lung
3	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
5	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
6	chr2:172324400-172340600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:172324800-172341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:172327000-172346800	Weak transcription	Colonic Mucosa	Colon
9	chr2:172327200-172341200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:172327200-172341600	Weak transcription	Brain Germinal Matrix	brain
11	chr2:172327200-172344000	Weak transcription	Gastric	stomach
12	chr2:172327200-172346600	Weak transcription	Thymus	Thymus
13	chr2:172327200-172348800	Weak transcription	Spleen	Spleen
14	chr2:172327400-172340800	Weak transcription	Lung	lung
15	chr2:172327400-172341200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:172327400-172341200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:172327400-172341400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:172327400-172343400	Weak transcription	A549	lung
19	chr2:172327400-172346800	Weak transcription	Hela-S3	cervix
20	chr2:172327400-172347600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:172327600-172344800	Weak transcription	Brain Anterior Caudate	brain
22	chr2:172327800-172346000	Weak transcription	Fetal Brain Male	brain
23	chr2:172330400-172346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:172331400-172345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:172331800-172343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:172332200-172340800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:172332200-172341000	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:172332200-172341200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:172332200-172342800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:172332200-172344000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:172332600-172341200	Weak transcription	Fetal Brain Female	brain
32	chr2:172332800-172343600	Weak transcription	Fetal Kidney	kidney
33	chr2:172333400-172345400	Weak transcription	NHDF-Ad	bronchial
34	chr2:172333400-172347800	Weak transcription	Brain Angular Gyrus	brain
35	chr2:172334600-172349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:172334800-172345000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:172334800-172345200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:172334800-172346200	Weak transcription	Psoas Muscle	Psoas
39	chr2:172334800-172346800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:172334800-172347200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:172334800-172349200	Weak transcription	Esophagus	oesophagus
42	chr2:172335000-172345000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:172335200-172346400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:172335400-172349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:172335600-172344600	Weak transcription	Osteobl	bone
46	chr2:172336200-172341000	Weak transcription	HUVEC	blood vessel
47	chr2:172336600-172340600	Strong transcription	Dnd41	blood
48	chr2:172336800-172342200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:172337000-172342000	Weak transcription	NH-A	brain
50	chr2:172337200-172344200	Weak transcription	Liver	Liver

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