Variant report

Variant	rs1584200
Chromosome Location	chr2:209155208-209155209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10171006	0.91[ASN][1000 genomes]
rs10173938	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174541	0.98[EUR][1000 genomes]
rs10175739	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10176626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10177810	0.84[EUR][1000 genomes]
rs10182087	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs10186350	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10186531	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10189031	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10190458	0.82[EUR][1000 genomes]
rs10194539	0.98[EUR][1000 genomes]
rs10197958	0.88[ASN][1000 genomes]
rs10198535	0.95[EUR][1000 genomes]
rs10201702	0.91[ASN][1000 genomes]
rs10208004	0.94[ASN][1000 genomes]
rs10208191	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10208295	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10210393	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10497897	0.98[EUR][1000 genomes]
rs10497898	0.98[EUR][1000 genomes]
rs10804168	0.91[ASN][1000 genomes]
rs10932256	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10932259	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10932260	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11538998	0.80[CEU][hapmap]
rs11677618	0.94[ASN][1000 genomes]
rs11691208	0.91[ASN][1000 genomes]
rs11691313	0.91[ASN][1000 genomes]
rs11885913	0.90[CEU][hapmap]
rs11895188	0.80[CEU][hapmap]
rs11898653	0.95[EUR][1000 genomes]
rs11901959	0.98[EUR][1000 genomes]
rs12185709	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12475932	0.90[CEU][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12479282	0.94[ASN][1000 genomes]
rs12623816	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12694104	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12694105	0.94[ASN][1000 genomes]
rs12694109	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs13392540	0.86[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13395304	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13407268	0.84[EUR][1000 genomes]
rs13407897	0.98[EUR][1000 genomes]
rs13412043	0.98[EUR][1000 genomes]
rs1370370	0.91[ASN][1000 genomes]
rs1370375	1.00[JPT][hapmap]
rs1370377	1.00[JPT][hapmap]
rs1437414	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1595329	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16840798	0.88[CHB][hapmap]
rs16840864	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16840898	0.91[ASN][1000 genomes]
rs16840910	0.91[ASN][1000 genomes]
rs16840936	0.91[ASN][1000 genomes]
rs16841092	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16841231	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16841233	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16841234	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17700235	0.90[CEU][hapmap]
rs1866044	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1866045	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1866046	0.90[CEU][hapmap]
rs1898436	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1900239	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2196604	0.83[ASN][1000 genomes]
rs2304545	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2363465	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2363466	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363468	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs28418905	0.86[EUR][1000 genomes]
rs2885786	0.88[ASN][1000 genomes]
rs35293936	0.81[TSI][hapmap]
rs35444703	0.83[YRI][hapmap]
rs3856350	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs4462735	0.88[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap]
rs4673390	0.94[ASN][1000 genomes]
rs4673391	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673392	0.88[ASN][1000 genomes]
rs4673393	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673394	1.00[CEU][hapmap]
rs4673395	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4675748	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4675750	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4675751	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57797425	0.91[ASN][1000 genomes]
rs60446438	0.88[ASN][1000 genomes]
rs6435441	0.91[ASN][1000 genomes]
rs6435443	0.91[ASN][1000 genomes]
rs66887797	0.95[EUR][1000 genomes]
rs6708926	0.91[ASN][1000 genomes]
rs6711933	0.91[ASN][1000 genomes]
rs6713477	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6721780	1.00[JPT][hapmap]
rs6724208	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725932	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6733607	0.91[ASN][1000 genomes]
rs6736599	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6742461	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs67669827	0.98[EUR][1000 genomes]
rs67965883	0.88[EUR][1000 genomes]
rs73056463	0.98[EUR][1000 genomes]
rs7355562	0.91[EUR][1000 genomes]
rs73983727	0.85[ASN][1000 genomes]
rs7557303	0.98[EUR][1000 genomes]
rs7569723	0.91[ASN][1000 genomes]
rs7574324	0.91[ASN][1000 genomes]
rs7581075	0.91[ASN][1000 genomes]
rs7583022	0.88[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap]
rs7587752	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592472	0.84[EUR][1000 genomes]
rs893256	0.91[ASN][1000 genomes]
rs9283521	0.91[ASN][1000 genomes]
rs9288392	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs934712	0.91[ASN][1000 genomes]
rs934714	0.91[ASN][1000 genomes]
rs959660	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs959855	0.91[ASN][1000 genomes]
rs962595	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9646839	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs999890	1.00[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs999891	1.00[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1584200	KANK1	trans	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:209136200-209161600	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr2:209138000-209155600	Strong transcription	Thymus	Thymus
4	chr2:209139000-209163400	Weak transcription	Right Ventricle	heart
5	chr2:209139200-209159400	Weak transcription	Small Intestine	intestine
6	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
7	chr2:209139800-209161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:209141800-209169000	Weak transcription	Hela-S3	cervix
10	chr2:209145800-209158400	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:209146600-209155600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:209147200-209155600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
14	chr2:209147800-209168200	Weak transcription	Gastric	stomach
15	chr2:209148600-209163400	Weak transcription	Lung	lung
16	chr2:209148600-209167600	Weak transcription	Esophagus	oesophagus
17	chr2:209148600-209169600	Weak transcription	Spleen	Spleen
18	chr2:209149600-209155400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr2:209149600-209179800	Strong transcription	Dnd41	blood
20	chr2:209150000-209156400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:209150000-209158000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:209150000-209160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:209150000-209160800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:209150200-209156200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:209150200-209156400	Strong transcription	Placenta	Placenta
26	chr2:209150400-209155400	Strong transcription	Fetal Lung	lung
27	chr2:209150400-209155800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:209150400-209156000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr2:209150400-209156000	Strong transcription	NHDF-Ad	bronchial
30	chr2:209150400-209160800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:209150600-209156000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:209150800-209155600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:209150800-209155800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:209150800-209157000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:209150800-209159400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:209151000-209159000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:209152000-209156000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:209152400-209156200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr2:209152600-209156200	Strong transcription	Brain Anterior Caudate	brain
40	chr2:209152600-209163400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:209152600-209163400	Weak transcription	Fetal Intestine Small	intestine
42	chr2:209152600-209163400	Weak transcription	NHEK	skin
43	chr2:209152800-209155400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:209152800-209155600	Strong transcription	Brain Substantia Nigra	brain
45	chr2:209152800-209155600	Strong transcription	K562	blood
46	chr2:209152800-209155800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr2:209152800-209155800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr2:209152800-209156000	Strong transcription	Brain Hippocampus Middle	brain
49	chr2:209152800-209156200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:209152800-209156200	Strong transcription	Fetal Kidney	kidney

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