Variant report

Variant	rs2185487
Chromosome Location	chr1:213073973-213073974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs1047881	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs10746439	0.95[ASN][1000 genomes]
rs10779585	0.92[ASN][1000 genomes]
rs10779586	0.92[ASN][1000 genomes]
rs10779587	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs10779588	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs10779590	0.96[ASN][1000 genomes]
rs10779591	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10779592	0.96[ASN][1000 genomes]
rs10779595	0.96[ASN][1000 genomes]
rs10864004	0.86[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs10864007	0.95[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs10864009	0.92[ASN][1000 genomes]
rs10864010	0.85[ASN][1000 genomes]
rs10864015	0.92[ASN][1000 genomes]
rs10864016	0.87[ASN][1000 genomes]
rs10864018	0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs10864020	0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10864022	0.92[ASN][1000 genomes]
rs10902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120042	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs11120043	0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11120047	0.95[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs11120049	0.85[ASN][1000 genomes]
rs11120050	0.86[ASN][1000 genomes]
rs11120053	0.95[ASN][1000 genomes]
rs11120054	0.95[ASN][1000 genomes]
rs11120055	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11120056	0.96[ASN][1000 genomes]
rs11120057	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs11120059	0.95[ASN][1000 genomes]
rs11120060	0.96[ASN][1000 genomes]
rs11120064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11803450	0.90[ASN][1000 genomes]
rs11806446	0.87[ASN][1000 genomes]
rs11808574	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12022540	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12023052	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs12027219	0.87[AFR][1000 genomes]
rs12030572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12031546	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12036698	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12036853	0.84[AMR][1000 genomes]
rs12040103	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12042181	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap]
rs12043346	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12043852	0.90[ASN][1000 genomes]
rs12048942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12069595	0.96[ASN][1000 genomes]
rs12118361	0.92[ASN][1000 genomes]
rs12122682	0.93[ASN][1000 genomes]
rs12123978	0.88[ASN][1000 genomes]
rs12125982	0.82[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs12136117	0.84[ASN][1000 genomes]
rs12140831	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs12565125	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12566087	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12567713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12567728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12731517	0.96[ASN][1000 genomes]
rs12735221	0.96[ASN][1000 genomes]
rs12744746	0.96[ASN][1000 genomes]
rs12756625	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1284860	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs1472342	0.96[ASN][1000 genomes]
rs1587174	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17019818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17019870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17019873	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874416	0.92[ASN][1000 genomes]
rs1874417	0.86[ASN][1000 genomes]
rs1874418	0.92[ASN][1000 genomes]
rs1874420	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1890932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2047287	0.98[ASN][1000 genomes]
rs2132431	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2172983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201602	0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs2201603	0.90[ASN][1000 genomes]
rs2220949	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2279692	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs2291771	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291772	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291773	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2497959	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2644548	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs28529876	0.86[ASN][1000 genomes]
rs3768548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3768550	0.92[ASN][1000 genomes]
rs3768551	0.84[ASN][1000 genomes]
rs41296726	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41297446	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41300993	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41301027	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951465	0.94[ASN][1000 genomes]
rs4951466	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951470	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951644	0.88[ASN][1000 genomes]
rs4951645	0.94[ASN][1000 genomes]
rs4951646	0.94[ASN][1000 genomes]
rs4951647	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951653	0.90[ASN][1000 genomes]
rs55793082	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56178110	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6540769	0.80[CHB][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs6657416	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs6659996	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6664909	0.91[ASN][1000 genomes]
rs6666167	0.90[ASN][1000 genomes]
rs6666356	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6666368	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6685877	0.88[ASN][1000 genomes]
rs6697428	0.92[ASN][1000 genomes]
rs6700342	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs6703156	0.88[ASN][1000 genomes]
rs72743967	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72743981	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72743991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72743993	0.94[ASN][1000 genomes]
rs7512393	0.90[ASN][1000 genomes]
rs7516718	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7516817	0.95[ASN][1000 genomes]
rs7519166	0.96[ASN][1000 genomes]
rs7522693	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7522877	0.96[ASN][1000 genomes]
rs7524203	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7528505	0.82[CHB][hapmap];0.89[ASN][1000 genomes]
rs7530561	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7531073	0.96[ASN][1000 genomes]
rs7534973	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7536716	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7538797	0.94[ASN][1000 genomes]
rs7544198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7544567	0.90[ASN][1000 genomes]
rs7544645	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs963328	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs9787376	0.92[ASN][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	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2185487	FLVCR	cis	multi-tissue	Pritchard
rs2185487	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs2185487	FLVCR1-AS1	cis	Whole Blood	GTEx
rs2185487	FLVCR1	cis	Thyroid	GTEx
rs2185487	FLVCR1	cis	Whole Blood	GTEx
rs2185487	FLVCR1-AS1	cis	lung	GTEx

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213056200-213074200	Strong transcription	Duodenum Mucosa	Duodenum
2	chr1:213057600-213075000	Weak transcription	Right Ventricle	heart
3	chr1:213062600-213075000	Weak transcription	Thymus	Thymus
4	chr1:213063600-213074800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:213066400-213075400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:213067400-213074800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:213067800-213076000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:213068400-213074800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:213069200-213074800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:213069400-213074000	Weak transcription	Fetal Heart	heart
11	chr1:213069800-213074400	Weak transcription	HepG2	liver
12	chr1:213070000-213074400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:213070000-213076600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:213070800-213074400	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr1:213071400-213075000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:213072000-213074200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:213072200-213074800	Weak transcription	HMEC	breast
18	chr1:213072200-213077000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr1:213072400-213075800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:213073000-213074000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:213073000-213074000	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr1:213073000-213074600	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr1:213073200-213074000	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr1:213073200-213074000	ZNF genes & repeats	NH-A	brain
25	chr1:213073200-213074600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr1:213073200-213079200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr1:213073200-213079400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr1:213073200-213079800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr1:213073400-213075800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr1:213073600-213074000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:213073600-213074000	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr1:213073600-213074000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:213073600-213074000	Weak transcription	Dnd41	blood
34	chr1:213073600-213074000	Weak transcription	Osteobl	bone
35	chr1:213073600-213075400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:213073600-213075400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:213073600-213075400	Weak transcription	Ovary	ovary
38	chr1:213073600-213076400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:213073600-213079200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr1:213073800-213074400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:213073800-213074400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:213073800-213074400	Weak transcription	Fetal Brain Male	brain
43	chr1:213073800-213074600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:213073800-213074800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr1:213073800-213074800	Weak transcription	HSMMtube	muscle
46	chr1:213073800-213075000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:213073800-213076200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:213073800-213079200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:213073800-213079200	Weak transcription	Right Atrium	heart
50	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea

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