Variant report

Variant	rs1045327
Chromosome Location	chr2:171849612-171849613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171847917..171851869-chr2:171851958..171856962,5	K562	blood:
2	chr2:171841759..171843356-chr2:171848039..171849633,2	K562	blood:
3	chr2:171847478..171849629-chr2:171852336..171855019,4	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10177560	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10182207	0.86[EUR][1000 genomes]
rs10183486	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10189480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10191270	1.00[CHB][hapmap]
rs10193992	0.83[EUR][1000 genomes]
rs10197081	0.86[EUR][1000 genomes]
rs10198197	1.00[CHB][hapmap]
rs10199500	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10207361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10208341	1.00[CHB][hapmap]
rs10210693	1.00[CHB][hapmap]
rs10210883	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1025240	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1025242	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1035825	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1035826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1035828	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs10515934	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs10803854	1.00[CHB][hapmap]
rs10930449	1.00[CHB][hapmap]
rs10930453	1.00[CHB][hapmap]
rs10930455	1.00[CHB][hapmap]
rs10930456	1.00[CHB][hapmap]
rs10930457	1.00[CHB][hapmap]
rs11553951	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12612871	1.00[CHB][hapmap]
rs12692962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12988738	0.88[ASN][1000 genomes]
rs12996518	0.84[EUR][1000 genomes]
rs12997252	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12998296	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13000644	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13000898	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13001088	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13002517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13003218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13004273	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs13006705	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13007415	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13008199	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13010307	1.00[CHB][hapmap]
rs13011011	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13016705	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[ASN][1000 genomes]
rs13026444	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13028857	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13030784	1.00[CHB][hapmap]
rs13034529	1.00[CHB][hapmap]
rs13036123	1.00[CHB][hapmap]
rs13402107	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13403285	1.00[CHB][hapmap]
rs13411575	1.00[CHB][hapmap]
rs13417709	0.80[ASN][1000 genomes]
rs13425247	1.00[CHB][hapmap]
rs13427723	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13432325	0.86[EUR][1000 genomes]
rs1344236	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1344237	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1529378	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1529391	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs16859066	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs16859081	0.85[ASN][1000 genomes]
rs17281735	0.84[EUR][1000 genomes]
rs1978592	0.87[CHD][hapmap]
rs1991370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2033160	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2052808	1.00[CHB][hapmap]
rs2081715	1.00[CHB][hapmap]
rs2195072	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.80[ASN][1000 genomes]
rs2195116	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2356607	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2356608	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2555922	1.00[CHB][hapmap]
rs2557794	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2676131	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs2676151	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs2723241	1.00[CHB][hapmap]
rs2723242	0.83[ASN][1000 genomes]
rs28740798	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34004615	0.85[ASN][1000 genomes]
rs34005022	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34017170	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34143031	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34303929	0.83[ASN][1000 genomes]
rs34330182	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34342928	0.84[EUR][1000 genomes]
rs34532258	0.81[ASN][1000 genomes]
rs34563349	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34622740	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34960296	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35047553	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35112379	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35123411	0.84[EUR][1000 genomes]
rs35230775	0.81[ASN][1000 genomes]
rs35279794	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35332006	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35381957	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35864840	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35890547	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35987434	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3755121	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs3755125	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.91[TSI][hapmap]
rs3770423	1.00[CHB][hapmap]
rs3770428	1.00[CHB][hapmap]
rs3770433	1.00[CHB][hapmap]
rs3770435	0.85[ASN][1000 genomes]
rs3770440	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs3770442	0.86[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.81[ASN][1000 genomes]
rs4564745	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4668355	1.00[CHB][hapmap]
rs4668368	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5028603	1.00[CHB][hapmap]
rs55987132	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56114146	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57236236	0.83[ASN][1000 genomes]
rs6433276	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6709077	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6710035	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6714164	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.82[ASN][1000 genomes]
rs6716127	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6730417	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6733178	1.00[CHB][hapmap]
rs6734903	0.85[ASN][1000 genomes]
rs6742797	1.00[CHB][hapmap]
rs6743201	0.85[ASN][1000 genomes]
rs6754315	1.00[CHB][hapmap]
rs6757510	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6758331	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6761642	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6761759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6761889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71415231	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71415232	0.84[EUR][1000 genomes]
rs71415233	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs719548	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.80[ASN][1000 genomes]
rs72886381	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73013441	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs731692	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs731693	1.00[CHB][hapmap]
rs73976229	0.85[EUR][1000 genomes]
rs7568083	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7579424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7580629	1.00[CHB][hapmap]
rs7585619	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7587244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7593186	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7593193	1.00[CHB][hapmap]
rs7603316	1.00[CHB][hapmap]
rs7606502	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7606822	1.00[CHB][hapmap]
rs9646785	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1045327	SP5	cis	cerebellum	SCAN
rs1045327	TLK1	cis	uninvolved skin	skin_eQTL
rs1045327	GAD1	cis	parietal	SCAN
rs1045327	TLK1	cis	normal skin	skin_eQTL
rs1045327	TLK1	cis	lesional skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831000-171850000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:171831200-171857400	Weak transcription	HSMMtube	muscle
5	chr2:171831400-171857000	Weak transcription	NHEK	skin
6	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:171832600-171852200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:171838600-171862000	Weak transcription	Ovary	ovary
10	chr2:171838800-171861800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:171839000-171852400	Weak transcription	NHLF	lung
12	chr2:171839200-171854800	Weak transcription	Pancreas	Pancrea
13	chr2:171840800-171861800	Weak transcription	Small Intestine	intestine
14	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:171841000-171852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:171841000-171862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:171841000-171865400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:171841400-171849800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:171841600-171859000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
23	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:171842400-171857600	Weak transcription	Fetal Brain Female	brain
25	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:171842800-171852400	Weak transcription	Aorta	Aorta
27	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:171843200-171850200	Weak transcription	Left Ventricle	heart
29	chr2:171843200-171863200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:171843200-171871800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:171843400-171852800	Weak transcription	Thymus	Thymus
32	chr2:171843600-171851200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:171843600-171852200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:171843600-171857000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:171843800-171863400	Strong transcription	Fetal Thymus	thymus
36	chr2:171844600-171853800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:171844600-171868800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:171844800-171854200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:171844800-171863400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:171844800-171873000	Strong transcription	GM12878-XiMat	blood
41	chr2:171845000-171850000	Weak transcription	HSMM	muscle
42	chr2:171845200-171852800	Weak transcription	Lung	lung
43	chr2:171845200-171861000	Weak transcription	Hela-S3	cervix
44	chr2:171845400-171850600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:171845400-171851000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:171845400-171851400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:171845400-171853800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:171845400-171854400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:171845400-171858800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:171845600-171849800	Weak transcription	Brain Anterior Caudate	brain

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