Variant report

Variant	rs730089
Chromosome Location	chr6:109715084-109715085
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	chr6:109701817..109708859-chr6:109709273..109715844,12	K562	blood:
2	chr6:109415474..109417008-chr6:109713860..109716302,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000080546	Chromatin interaction
ENSG00000135535	Chromatin interaction
ENSG00000260273	Chromatin interaction
ENSG00000183137	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10457192	0.88[CEU][hapmap];0.80[GIH][hapmap]
rs10457194	0.87[CEU][hapmap]
rs10457195	0.88[CEU][hapmap]
rs1046943	0.85[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes]
rs1054607	0.85[YRI][hapmap]
rs1074765	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1074766	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10872033	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11153183	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs11251	0.96[CEU][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs11754455	0.87[CEU][hapmap]
rs11755641	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs12194061	0.87[CEU][hapmap]
rs12197180	0.88[CEU][hapmap]
rs12198938	0.88[CEU][hapmap]
rs12199154	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs12212476	0.87[CEU][hapmap]
rs12214147	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12529733	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13219952	0.95[EUR][1000 genomes]
rs13220915	0.87[CEU][hapmap]
rs1406899	0.88[CEU][hapmap]
rs1476387	0.93[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1521907	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17070580	0.82[MKK][hapmap]
rs17070591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17070656	0.80[YRI][hapmap]
rs1853330	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1885690	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1885691	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2024850	0.88[CEU][hapmap]
rs2024853	0.88[CEU][hapmap]
rs2211288	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236084	0.85[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes]
rs2277113	0.85[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.87[MEX][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2277114	0.88[CEU][hapmap];0.80[GIH][hapmap]
rs2884037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35146243	0.88[EUR][1000 genomes]
rs3734652	0.85[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes]
rs3757230	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3757231	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3757235	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]
rs3778474	0.96[CEU][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs3778478	0.88[EUR][1000 genomes]
rs3799842	0.96[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.80[YRI][hapmap]
rs3818933	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4636056	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945831	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4946967	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs4946970	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946976	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs58644322	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59597139	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6914216	0.94[EUR][1000 genomes]
rs6920372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920712	0.85[YRI][hapmap]
rs6920962	0.91[CHB][hapmap];0.86[YRI][hapmap]
rs6939548	0.88[EUR][1000 genomes]
rs6939953	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs699700	0.94[EUR][1000 genomes]
rs736830	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]
rs746794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748669	0.96[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs7751582	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7754650	0.96[CEU][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs7755941	0.87[CEU][hapmap]
rs7768973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7773950	0.88[CEU][hapmap]
rs8465	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs910730	0.85[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.91[EUR][1000 genomes]
rs9320286	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320287	0.82[MKK][hapmap]
rs9372213	0.81[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9386799	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9480947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480949	0.93[EUR][1000 genomes]
rs9480956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9480958	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9487064	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487066	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487069	0.94[EUR][1000 genomes]
rs9487070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487076	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9487084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9487085	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9487094	0.82[MKK][hapmap]
rs9487103	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs974034	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9791241	0.85[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes]

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs730089	ZBTB24	cis	cerebellum	SCAN
rs730089	SMPD2	cis	parietal	SCAN
rs730089	RP11-425D10.10	cis	Skin Sun Exposed Lower leg	GTEx
rs730089	AKD1	cis	cerebellum	SCAN
rs730089	AKD1	cis	parietal	SCAN
rs730089	FIG4	cis	parietal	SCAN
rs730089	CD164	cis	parietal	SCAN
rs730089	ZBTB24	Cis_1M	lymphoblastoid	RTeQTL
rs730089	SMPD2	cis	Esophagus Mucosa	GTEx
rs730089	C6orf199	Cis_1M	lymphoblastoid	RTeQTL
rs730089	FIG4	cis	cerebellum	SCAN
rs730089	RP11-425D10.10	cis	Whole Blood	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109705000-109745200	Weak transcription	Fetal Kidney	kidney
2	chr6:109706200-109717200	Weak transcription	Brain Angular Gyrus	brain
3	chr6:109706200-109717800	Weak transcription	Thymus	Thymus
4	chr6:109706400-109718400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:109706600-109717400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:109706600-109735800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:109706800-109715600	Weak transcription	Gastric	stomach
8	chr6:109706800-109718600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:109707000-109755400	Weak transcription	Fetal Intestine Small	intestine
10	chr6:109711800-109725000	Weak transcription	Brain Anterior Caudate	brain
11	chr6:109712800-109715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:109712800-109716400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:109712800-109736200	Weak transcription	Left Ventricle	heart
14	chr6:109714200-109716000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:109714400-109715400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:109714800-109715200	Enhancers	Brain Substantia Nigra	brain
17	chr6:109714800-109715200	Enhancers	K562	blood
18	chr6:109714800-109715200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:109714800-109715400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:109714800-109715400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:109714800-109715400	Enhancers	Brain Hippocampus Middle	brain
22	chr6:109714800-109715600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:109714800-109715800	Enhancers	HMEC	breast
24	chr6:109714800-109716000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:109714800-109716000	Enhancers	Stomach Mucosa	stomach
26	chr6:109714800-109716200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:109714800-109716200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:109715000-109715200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:109715000-109715600	Enhancers	NHEK	skin
30	chr6:109715000-109716000	Enhancers	Hela-S3	cervix
31	chr6:109715000-109716200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:109715000-109716200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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