Variant report

Variant	rs6697248
Chromosome Location	chr1:47766943-47766944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47745746..47747792-chr1:47765505..47768331,2	MCF-7	breast:
2	chr1:47766106..47769522-chr1:47770761..47774042,5	K562	blood:
3	chr1:47766511..47768072-chr1:47777921..47779885,2	K562	blood:

Variant related genes	Relation type
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10157883	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1028646	0.88[ASN][1000 genomes]
rs1028647	0.88[ASN][1000 genomes]
rs10399673	0.81[JPT][hapmap]
rs10789507	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890476	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890477	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10890478	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211508	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211510	0.80[ASN][1000 genomes]
rs11211511	0.82[ASN][1000 genomes]
rs11211513	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211517	0.95[JPT][hapmap]
rs11211520	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211521	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211522	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211523	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211524	0.95[CHB][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11578038	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11582877	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12024163	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12039726	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12040451	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12042624	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046294	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12047319	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048407	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12409549	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566521	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12743877	0.80[ASN][1000 genomes]
rs2306470	0.86[ASN][1000 genomes]
rs2406105	0.84[ASN][1000 genomes]
rs2472725	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2472730	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2472731	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2494247	0.88[ASN][1000 genomes]
rs2622925	0.95[JPT][hapmap]
rs2742099	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2742103	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742104	0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2758735	0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758736	0.87[ASN][1000 genomes]
rs2758737	0.88[ASN][1000 genomes]
rs2758744	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2798349	0.82[MEX][hapmap]
rs2820989	0.95[JPT][hapmap]
rs2821087	0.88[ASN][1000 genomes]
rs2821088	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2821089	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2821090	0.88[ASN][1000 genomes]
rs2821092	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2821093	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2821096	0.81[ASN][1000 genomes]
rs2897237	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3088062	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.85[ASN][1000 genomes]
rs3122607	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3122611	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3122615	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3122616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3122619	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3122620	0.87[ASN][1000 genomes]
rs3122623	0.82[ASN][1000 genomes]
rs3125624	0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3125628	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs3125630	0.90[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3125631	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3125632	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3125633	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs3125635	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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3125636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3125638	0.84[ASN][1000 genomes]
rs3125641	0.89[ASN][1000 genomes]
rs3125644	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];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35880845	0.86[ASN][1000 genomes]
rs3923691	0.88[AMR][1000 genomes]
rs3925058	0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4463720	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4492666	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4600090	0.86[MEX][hapmap]
rs4603175	0.81[JPT][hapmap]
rs4926836	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4926839	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56987466	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58688029	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59492977	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61284456	0.89[EUR][1000 genomes]
rs61782712	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61782733	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61784774	0.86[EUR][1000 genomes]
rs6588348	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs6660321	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6671254	0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6673882	0.81[JPT][hapmap]
rs6689687	0.82[ASN][1000 genomes]
rs6690084	0.86[MEX][hapmap]
rs7511699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525650	0.95[JPT][hapmap]
rs7532148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541522	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7541748	0.87[ASN][1000 genomes]
rs7545281	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9436394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436429	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436430	0.94[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9436749	0.89[ASN][1000 genomes]
rs9436838	0.82[ASN][1000 genomes]
rs9436882	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6697248	CMPK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47714400-47779200	Weak transcription	Small Intestine	intestine
2	chr1:47714600-47778400	Weak transcription	Fetal Heart	heart
3	chr1:47716600-47772600	Strong transcription	Dnd41	blood
4	chr1:47723400-47772400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:47729000-47767000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:47730400-47770200	Weak transcription	Colonic Mucosa	Colon
7	chr1:47731400-47778000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:47735400-47779000	Weak transcription	Esophagus	oesophagus
9	chr1:47741400-47771400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:47741600-47770800	Strong transcription	Fetal Thymus	thymus
11	chr1:47741800-47770800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:47742600-47773000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:47742600-47773000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:47743800-47779200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:47744200-47779000	Weak transcription	Brain Angular Gyrus	brain
16	chr1:47744400-47779000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:47744800-47779000	Weak transcription	HSMMtube	muscle
18	chr1:47746200-47772000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:47746200-47778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:47746600-47772200	Weak transcription	Ovary	ovary
21	chr1:47746600-47776400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:47746600-47778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:47746600-47778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:47746600-47778400	Weak transcription	Fetal Brain Female	brain
25	chr1:47746800-47768800	Weak transcription	Aorta	Aorta
26	chr1:47746800-47778800	Weak transcription	Placenta	Placenta
27	chr1:47749600-47777800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:47750000-47779200	Weak transcription	Right Atrium	heart
29	chr1:47755200-47779000	Weak transcription	Primary B cells from cord blood	blood
30	chr1:47755400-47778800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:47755600-47767000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:47755600-47767200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:47756600-47768400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:47757400-47773000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:47757800-47771400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:47758000-47771000	Strong transcription	K562	blood
37	chr1:47760000-47772600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:47760200-47767000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:47760800-47770600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:47762200-47768200	Strong transcription	Fetal Stomach	stomach
41	chr1:47762400-47768400	Strong transcription	GM12878-XiMat	blood
42	chr1:47762400-47768400	Strong transcription	HMEC	breast
43	chr1:47763200-47769600	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr1:47763400-47768000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:47763400-47778600	Weak transcription	Adipose Nuclei	Adipose
46	chr1:47763600-47779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:47763600-47779200	Weak transcription	Fetal Brain Male	brain
48	chr1:47764200-47770800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:47764200-47779000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:47764200-47779000	Weak transcription	Stomach Mucosa	stomach

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