Variant report

Variant	rs13000585
Chromosome Location	chr2:98477690-98477691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98469026..98470967-chr2:98475070..98477948,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10166513	1.00[ASN][1000 genomes]
rs10167772	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168543	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10168709	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10169155	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10175129	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176826	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs10180434	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180837	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10183768	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184393	0.87[EUR][1000 genomes]
rs10184457	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10184552	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10188497	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10188713	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10189414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191101	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10191483	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10192322	0.89[CEU][hapmap];0.82[CHB][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10202138	1.00[ASN][1000 genomes]
rs10206684	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208070	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10209970	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10210299	0.83[EUR][1000 genomes]
rs10210520	0.94[ASN][1000 genomes]
rs10210880	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1024086	1.00[CHB][hapmap]
rs11886417	0.94[ASN][1000 genomes]
rs11893437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11894541	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894895	0.94[ASN][1000 genomes]
rs11895170	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs11897301	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712117	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712120	0.94[ASN][1000 genomes]
rs12712147	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12712162	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712163	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12712172	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992955	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004862	0.83[ASN][1000 genomes]
rs13008678	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13008904	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010004	0.94[ASN][1000 genomes]
rs13012645	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13387725	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13404788	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13427422	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1446327	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1503202	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1960329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1982336	0.89[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2121271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2293679	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2305142	0.85[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs34190123	1.00[ASN][1000 genomes]
rs34305873	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34414288	0.94[ASN][1000 genomes]
rs34469351	0.90[ASN][1000 genomes]
rs35185431	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35203092	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35402416	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35776557	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35807655	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940587	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36079497	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821053	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55753459	1.00[ASN][1000 genomes]
rs55817781	0.82[EUR][1000 genomes]
rs6543088	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.81[MKK][hapmap];0.85[ASN][1000 genomes]
rs6543111	0.91[ASN][1000 genomes]
rs6707719	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6707750	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6712078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6713504	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6718982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721323	0.89[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6721467	0.81[EUR][1000 genomes]
rs6728312	0.94[ASN][1000 genomes]
rs6736735	0.85[CEU][hapmap]
rs6738401	1.00[ASN][1000 genomes]
rs6751727	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755021	1.00[ASN][1000 genomes]
rs6756969	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6760008	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs68115667	0.94[ASN][1000 genomes]
rs6875	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.81[MKK][hapmap];0.82[ASN][1000 genomes]
rs71429373	1.00[ASN][1000 genomes]
rs718159	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7557495	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570009	0.94[ASN][1000 genomes]
rs7578638	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7582298	1.00[ASN][1000 genomes]
rs7588227	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7591374	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7593290	0.94[ASN][1000 genomes]
rs7594928	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595039	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7599043	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605288	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9784011	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9808558	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9973490	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13000585	ADRA2B	cis	parietal	SCAN
rs13000585	TEKT4	cis	cerebellum	SCAN
rs13000585	LONRF2	cis	parietal	SCAN
rs13000585	INPP4A	cis	cerebellum	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
2	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
3	chr2:98428800-98485000	Weak transcription	NHLF	lung
4	chr2:98434200-98484000	Weak transcription	NHDF-Ad	bronchial
5	chr2:98434400-98485800	Weak transcription	Lung	lung
6	chr2:98447800-98479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:98449600-98482000	Weak transcription	Fetal Kidney	kidney
9	chr2:98457000-98478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:98457000-98485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:98457200-98485800	Weak transcription	Brain Anterior Caudate	brain
12	chr2:98457400-98485800	Weak transcription	Aorta	Aorta
13	chr2:98457600-98485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:98457800-98478000	Weak transcription	Colonic Mucosa	Colon
15	chr2:98457800-98485200	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:98458200-98486000	Weak transcription	Ovary	ovary
17	chr2:98458200-98486800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:98458400-98478000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:98458600-98485600	Weak transcription	Placenta	Placenta
20	chr2:98459400-98485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:98460000-98486000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:98461600-98480000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:98461600-98485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:98462800-98485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:98465000-98481400	Weak transcription	HSMMtube	muscle
26	chr2:98466600-98485600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:98467000-98478000	Weak transcription	HSMM	muscle
28	chr2:98467000-98484000	Weak transcription	Psoas Muscle	Psoas
29	chr2:98467000-98484800	Weak transcription	NH-A	brain
30	chr2:98467000-98485000	Weak transcription	Osteobl	bone
31	chr2:98467000-98486800	Weak transcription	K562	blood
32	chr2:98467200-98484200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:98468400-98486400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:98468600-98478600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:98468600-98486200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:98469000-98479200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:98469000-98485000	Weak transcription	Fetal Thymus	thymus
38	chr2:98469200-98486000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:98469400-98486600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:98470200-98485000	Weak transcription	A549	lung
41	chr2:98470400-98478000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:98470400-98478200	Weak transcription	NHEK	skin
43	chr2:98471200-98478400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:98471400-98485000	Weak transcription	Right Atrium	heart
45	chr2:98471400-98485800	Weak transcription	Brain Substantia Nigra	brain
46	chr2:98473000-98478600	Strong transcription	HepG2	liver
47	chr2:98473200-98479600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:98473600-98478400	Strong transcription	Primary T cells from cord blood	blood
49	chr2:98474200-98477800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:98474400-98479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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