Variant report

Variant	rs2295018
Chromosome Location	chr6:46127807-46127808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:46123024..46125311-chr6:46125396..46128164,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1048076	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1048079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1048082	0.81[AFR][1000 genomes]
rs1048083	0.85[AFR][1000 genomes]
rs1076736	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1076737	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10948280	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11756160	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11758852	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12526912	0.84[AFR][1000 genomes]
rs12665453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs14781	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2006030	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2022422	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2022423	0.83[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs2143746	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2179757	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2206965	0.86[AFR][1000 genomes]
rs2206967	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2235881	0.86[AFR][1000 genomes]
rs2235883	0.86[AFR][1000 genomes]
rs2295016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295017	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs2894662	0.86[AFR][1000 genomes]
rs3756801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777634	0.85[AFR][1000 genomes]
rs3806994	0.84[AFR][1000 genomes]
rs3806995	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs3891763	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3905440	0.86[AFR][1000 genomes]
rs6458488	0.92[EUR][1000 genomes]
rs6458489	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6458492	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902187	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6921870	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6923745	0.86[AFR][1000 genomes]
rs6926570	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs6930766	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6940977	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6941587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7356841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7356846	0.94[CHB][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7740398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7745824	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7748442	0.86[AFR][1000 genomes]
rs7760123	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7769738	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7770384	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9349345	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs9349348	0.86[AFR][1000 genomes]
rs9357501	0.86[AFR][1000 genomes]
rs9357502	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367237	0.86[AFR][1000 genomes]
rs9369600	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9369601	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369602	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9381421	0.92[JPT][hapmap];0.86[EUR][1000 genomes]
rs9381430	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9395155	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9395159	0.85[AFR][1000 genomes]
rs9463184	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9463185	0.85[AFR][1000 genomes]
rs9472684	0.83[CEU][hapmap];0.81[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs9472688	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9472689	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9472690	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9472692	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9472699	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472700	0.85[AFR][1000 genomes]
rs9472705	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472707	0.86[AFR][1000 genomes]
rs9472708	0.83[AFR][1000 genomes]
rs9472709	0.86[AFR][1000 genomes]
rs9472713	0.84[AFR][1000 genomes]
rs9472714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9472715	0.84[AFR][1000 genomes]
rs9763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	esv1842212	chr6:46111940-46127836	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2295018	ENPP5	cis	cerebellum	SCAN
rs2295018	ENPP5	cis	parietal	SCAN
rs2295018	ENPP4	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:46098800-46129000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:46105400-46133800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:46105600-46128600	Weak transcription	Brain Angular Gyrus	brain
4	chr6:46105600-46137400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:46106400-46138000	Weak transcription	Lung	lung
6	chr6:46108000-46130000	Weak transcription	Brain Substantia Nigra	brain
7	chr6:46111400-46128600	Weak transcription	Primary T cells from cord blood	blood
8	chr6:46111400-46128800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:46111400-46137800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:46111600-46138000	Weak transcription	Fetal Thymus	thymus
11	chr6:46122800-46138000	Weak transcription	Pancreas	Pancrea
12	chr6:46123400-46137600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:46123800-46128600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:46123800-46138000	Weak transcription	Fetal Brain Male	brain
15	chr6:46124000-46128800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:46124000-46128800	Weak transcription	Brain Anterior Caudate	brain
17	chr6:46124000-46137400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:46124200-46128600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:46124600-46137600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:46124800-46137800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:46125400-46128200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:46125600-46129200	Weak transcription	Aorta	Aorta
23	chr6:46125600-46131000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:46125800-46128400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:46126000-46138000	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:46126200-46137800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:46126200-46138000	Weak transcription	Fetal Intestine Large	intestine
28	chr6:46126400-46137800	Weak transcription	Fetal Intestine Small	intestine
29	chr6:46127000-46138000	Weak transcription	Ovary	ovary
30	chr6:46127200-46137800	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:46127400-46128000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:46127400-46130400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:46127400-46137800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:46127600-46128000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:46127600-46130200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:46127600-46130800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:46127600-46137600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:46127600-46137600	Weak transcription	Fetal Kidney	kidney
39	chr6:46127800-46130600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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