Variant report

Variant	rs216544
Chromosome Location	chr2:32318806-32318807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32317095..32319080-chr2:32338095..32340081,2	K562	blood:
2	chr2:32314303..32316677-chr2:32317500..32319718,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10172468	0.85[JPT][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10208246	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10439444	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap]
rs10490360	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs11124274	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11124275	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs11124276	0.98[ASN][1000 genomes]
rs11124277	0.94[ASN][1000 genomes]
rs11124278	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11676938	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11678119	0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap]
rs11681731	0.86[ASN][1000 genomes]
rs11683760	0.80[ASN][1000 genomes]
rs11683842	0.80[ASN][1000 genomes]
rs11683931	0.95[ASN][1000 genomes]
rs11686061	0.95[ASN][1000 genomes]
rs11691879	0.82[ASN][1000 genomes]
rs12465124	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12465351	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12474443	0.91[ASN][1000 genomes]
rs12611678	0.88[ASN][1000 genomes]
rs12614686	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs12617289	0.89[ASN][1000 genomes]
rs12617290	0.89[ASN][1000 genomes]
rs12618002	0.86[ASN][1000 genomes]
rs12620922	0.96[ASN][1000 genomes]
rs12989936	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12992743	0.92[ASN][1000 genomes]
rs12997026	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs13000753	0.91[ASN][1000 genomes]
rs13007972	0.87[ASN][1000 genomes]
rs13008192	0.85[ASN][1000 genomes]
rs13017189	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs13022197	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs13024004	0.91[ASN][1000 genomes]
rs13029752	0.93[ASN][1000 genomes]
rs13033833	0.87[ASN][1000 genomes]
rs13427170	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13431540	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs160797	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs177083	0.91[GIH][hapmap]
rs17767988	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs212679	0.86[JPT][hapmap]
rs212686	0.80[EUR][1000 genomes]
rs212687	0.83[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs212703	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap]
rs212704	0.88[GIH][hapmap]
rs212713	0.83[CEU][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap]
rs212715	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs212716	0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap]
rs212717	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs212738	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs212739	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs212743	0.81[EUR][1000 genomes]
rs212744	0.83[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs212745	0.86[JPT][hapmap]
rs212746	0.86[JPT][hapmap]
rs212748	0.87[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs212753	0.81[EUR][1000 genomes]
rs212755	0.83[CEU][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs212760	0.86[JPT][hapmap]
rs212762	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs216538	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2235134	0.96[ASN][1000 genomes]
rs2280967	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2280969	0.89[ASN][1000 genomes]
rs2280973	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2294176	0.86[ASN][1000 genomes]
rs2294179	0.88[ASN][1000 genomes]
rs2365555	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2365558	0.91[ASN][1000 genomes]
rs2366736	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs34856365	0.95[ASN][1000 genomes]
rs35650265	0.88[ASN][1000 genomes]
rs36014814	0.95[ASN][1000 genomes]
rs3752916	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs3752917	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769602	0.90[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap]
rs3769603	0.84[ASN][1000 genomes]
rs3769604	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3769606	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs385076	0.83[CHB][hapmap]
rs3851308	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs435572	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs4407291	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs443609	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs4519572	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs454119	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs467523	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs469305	0.84[ASN][1000 genomes]
rs479333	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs4952209	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4952247	0.82[ASN][1000 genomes]
rs4952248	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs4952249	0.86[ASN][1000 genomes]
rs4952250	1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs4952252	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55877106	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56208031	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56740303	0.95[ASN][1000 genomes]
rs62134021	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6543647	0.88[ASN][1000 genomes]
rs6543649	0.84[ASN][1000 genomes]
rs659239	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs67157050	0.91[ASN][1000 genomes]
rs6716179	0.83[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs6717209	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6723154	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs6725184	0.87[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs6737500	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6738349	0.89[ASN][1000 genomes]
rs6747488	0.96[ASN][1000 genomes]
rs6748621	0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6749336	0.88[ASN][1000 genomes]
rs6752375	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6758024	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs6760105	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6761417	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs678251	0.87[ASN][1000 genomes]
rs72862234	0.91[ASN][1000 genomes]
rs7370704	0.88[ASN][1000 genomes]
rs7559964	0.89[ASN][1000 genomes]
rs7561519	0.95[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7566162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7572964	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7573543	1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs7575139	0.91[ASN][1000 genomes]
rs7577408	0.96[ASN][1000 genomes]
rs7577696	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7581032	0.91[ASN][1000 genomes]
rs7581340	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7581432	0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs7586448	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7588883	0.83[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7600173	0.88[ASN][1000 genomes]
rs7600885	0.89[ASN][1000 genomes]
rs7601267	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7604559	0.89[ASN][1000 genomes]
rs7605242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7608127	0.91[ASN][1000 genomes]
rs7608229	0.91[ASN][1000 genomes]
rs9677104	0.90[ASN][1000 genomes]
rs9750659	0.91[ASN][1000 genomes]
rs9752631	0.94[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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs216544	NLRC4	cis	lymphoblastoid	seeQTL
rs216544	EHD3	cis	parietal	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32289600-32330800	Weak transcription	Spleen	Spleen
2	chr2:32289800-32319400	Weak transcription	Aorta	Aorta
3	chr2:32289800-32319400	Weak transcription	Pancreas	Pancrea
4	chr2:32289800-32330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:32290200-32330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:32290400-32331000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:32290600-32330800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:32290800-32330200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:32291000-32330400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:32291000-32330800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:32291000-32332600	Weak transcription	A549	lung
13	chr2:32291400-32327600	Weak transcription	Hela-S3	cervix
14	chr2:32291400-32331000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:32291600-32322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:32291600-32330800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:32291600-32330800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:32291600-32332200	Weak transcription	HUVEC	blood vessel
19	chr2:32292000-32330800	Weak transcription	Lung	lung
20	chr2:32292000-32343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:32292400-32330800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:32294600-32325000	Weak transcription	Dnd41	blood
24	chr2:32295000-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:32295800-32353800	Weak transcription	Fetal Brain Male	brain
26	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:32296800-32321400	Weak transcription	K562	blood
28	chr2:32297600-32360600	Weak transcription	Osteobl	bone
29	chr2:32298800-32341400	Weak transcription	Small Intestine	intestine
30	chr2:32300000-32339600	Weak transcription	HepG2	liver
31	chr2:32300200-32320600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:32303800-32330800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:32304600-32319000	Weak transcription	Fetal Brain Female	brain
34	chr2:32305000-32319000	Weak transcription	Primary T cells from cord blood	blood
35	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
36	chr2:32311600-32330800	Weak transcription	Psoas Muscle	Psoas
37	chr2:32311800-32331000	Weak transcription	Gastric	stomach
38	chr2:32312000-32330800	Weak transcription	Brain Substantia Nigra	brain
39	chr2:32312200-32330800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:32312400-32319800	Strong transcription	Liver	Liver
41	chr2:32312400-32330800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:32312600-32331000	Weak transcription	Colonic Mucosa	Colon
43	chr2:32313200-32319800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:32313200-32320600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:32313200-32360600	Weak transcription	NH-A	brain
46	chr2:32313400-32321200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:32314000-32330200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:32315400-32319000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr2:32315400-32319200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:32315400-32319200	Weak transcription	Fetal Intestine Large	intestine

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