Variant report

Variant	rs3757235
Chromosome Location	chr6:109711841-109711842
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:109710996..109712933-chr6:109713290..109714925,2	MCF-7	breast:
2	chr6:109701817..109708859-chr6:109709273..109715844,12	K562	blood:
3	chr6:109711182..109714084-chr6:109716397..109718567,2	K562	blood:
4	chr6:109711604..109714204-chr6:109721732..109723355,2	K562	blood:
5	chr6:109703167..109707934-chr6:109708161..109712915,9	MCF-7	breast:
6	chr6:109618104..109620663-chr6:109710406..109712166,2	MCF-7	breast:
7	chr6:109556764..109558719-chr6:109710608..109712276,2	K562	blood:

Variant related genes	Relation type
ENSG00000243587	Chromatin interaction
ENSG00000260273	Chromatin interaction
ENSG00000135535	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	0.83[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];0.81[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]
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]
rs730089	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]
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	0.83[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	0.83[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
rs3757235	AKD1	cis	parietal	SCAN
rs3757235	ZBTB24	cis	cerebellum	SCAN
rs3757235	ZBTB24	Cis_1M	lymphoblastoid	RTeQTL
rs3757235	SMPD2	cis	Esophagus Mucosa	GTEx
rs3757235	AKD1	cis	cerebellum	SCAN
rs3757235	CD164	cis	parietal	SCAN
rs3757235	C6orf199	Cis_1M	lymphoblastoid	RTeQTL
rs3757235	FIG4	cis	parietal	SCAN
rs3757235	RP11-425D10.10	cis	Whole Blood	GTEx
rs3757235	SMPD2	cis	parietal	SCAN
rs3757235	RP11-425D10.10	cis	Skin Sun Exposed Lower leg	GTEx
rs3757235	FIG4	cis	cerebellum	SCAN

Chromatin state (count:49 , 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	chr6:109706400-109715000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:109706400-109718400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:109706600-109714800	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:109706600-109717400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:109706600-109735800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:109706800-109712600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:109706800-109715600	Weak transcription	Gastric	stomach
11	chr6:109706800-109718600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:109707000-109712000	Weak transcription	Hela-S3	cervix
13	chr6:109707000-109755400	Weak transcription	Fetal Intestine Small	intestine
14	chr6:109709800-109714800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:109710200-109713400	Enhancers	Fetal Intestine Large	intestine
16	chr6:109710200-109714800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:109710800-109712000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:109710800-109712000	Enhancers	Stomach Mucosa	stomach
19	chr6:109710800-109712800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:109710800-109712800	Enhancers	Adipose Nuclei	Adipose
21	chr6:109710800-109712800	Enhancers	Placenta	Placenta
22	chr6:109710800-109713000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:109710800-109713000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:109710800-109713000	Enhancers	NHEK	skin
25	chr6:109710800-109713200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:109711000-109712000	Enhancers	Psoas Muscle	Psoas
27	chr6:109711000-109712800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:109711000-109713600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:109711200-109712800	Enhancers	Fetal Muscle Leg	muscle
30	chr6:109711200-109713000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:109711400-109712000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:109711400-109713000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:109711400-109713400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:109711400-109714800	Weak transcription	Brain Substantia Nigra	brain
35	chr6:109711400-109714800	Weak transcription	HMEC	breast
36	chr6:109711600-109712000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:109711600-109712000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr6:109711600-109712000	Enhancers	Fetal Lung	lung
39	chr6:109711600-109712200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:109711600-109712200	Enhancers	Fetal Stomach	stomach
41	chr6:109711600-109713000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:109711800-109712000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:109711800-109712000	Enhancers	Osteobl	bone
44	chr6:109711800-109712200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:109711800-109712200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr6:109711800-109712400	Weak transcription	Pancreas	Pancrea
47	chr6:109711800-109712600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr6:109711800-109712600	Weak transcription	Left Ventricle	heart
49	chr6:109711800-109725000	Weak transcription	Brain Anterior Caudate	brain

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