Variant report

Variant	rs1737727
Chromosome Location	chr6:34904488-34904489
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	chr6:34891666..34893180-chr6:34904331..34907073,2	K562	blood:
2	chr6:34904349..34905899-chr6:34908056..34909609,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1051115	0.81[YRI][hapmap]
rs10807144	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10807145	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10947536	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12212217	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12661991	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13191009	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13218101	0.88[ASN][1000 genomes]
rs13219624	0.94[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1535001	0.95[GIH][hapmap]
rs1555107	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs16896390	0.82[CHB][hapmap]
rs2140418	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2177381	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2273006	0.94[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2293242	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2473613	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2473615	0.89[GIH][hapmap]
rs2504162	0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2504168	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2985	0.94[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];0.88[MEX][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3734262	0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs3800451	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4432973	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4646933	0.82[YRI][hapmap]
rs4646940	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4646944	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4646949	0.88[GIH][hapmap]
rs6457797	0.83[LWK][hapmap];0.82[YRI][hapmap]
rs6905468	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs6907619	0.95[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs6918183	0.87[ASN][1000 genomes]
rs6918872	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6932857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6941065	0.81[LWK][hapmap];0.81[MKK][hapmap]
rs7739385	0.82[YRI][hapmap]
rs7739991	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7753949	0.91[GIH][hapmap]
rs7757211	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7759369	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs847846	0.95[GIH][hapmap]
rs847847	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs847848	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs847850	0.85[CEU][hapmap]
rs847851	0.84[GIH][hapmap]
rs9296139	0.88[ASW][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9357188	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9368834	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs9368836	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9380469	0.82[CEU][hapmap]
rs9394252	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9784818	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1737727	TAF11	cis	parietal	SCAN
rs1737727	UHRF1BP1	cis	Artery Tibial	GTEx
rs1737727	TAF11	cis	cerebellum	SCAN
rs1737727	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs1737727	UHRF1BP1	cis	parietal	SCAN
rs1737727	TAF11	cis	lymphoblastoid	seeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
2	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
3	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:34894600-34907200	Weak transcription	HepG2	liver
7	chr6:34895000-34907400	Weak transcription	HSMMtube	muscle
8	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:34896200-34907200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:34896600-34907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:34896600-34910600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:34898200-34908000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:34901600-34907600	Enhancers	Fetal Heart	heart
15	chr6:34902200-34909000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:34902400-34915200	Weak transcription	NHEK	skin
17	chr6:34902400-34915400	Weak transcription	HMEC	breast
18	chr6:34902600-34922400	Weak transcription	Brain Germinal Matrix	brain
19	chr6:34902800-34904600	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:34902800-34905200	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:34903000-34905600	Weak transcription	Adipose Nuclei	Adipose
22	chr6:34903000-34907600	Weak transcription	Placenta	Placenta
23	chr6:34903000-34907600	Weak transcription	K562	blood
24	chr6:34903000-34907800	Weak transcription	Aorta	Aorta
25	chr6:34903000-34911200	Weak transcription	Fetal Thymus	thymus
26	chr6:34903200-34905200	Weak transcription	Liver	Liver
27	chr6:34903200-34905200	Weak transcription	Left Ventricle	heart
28	chr6:34903200-34905200	Weak transcription	Ovary	ovary
29	chr6:34903200-34905800	Weak transcription	Stomach Mucosa	stomach
30	chr6:34903200-34906200	Weak transcription	Lung	lung
31	chr6:34903200-34906200	Weak transcription	Right Atrium	heart
32	chr6:34903200-34907000	Weak transcription	Fetal Intestine Large	intestine
33	chr6:34903200-34907800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:34903200-34909400	Weak transcription	Psoas Muscle	Psoas
35	chr6:34903200-34910800	Weak transcription	Right Ventricle	heart
36	chr6:34903200-34921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:34903200-34927800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:34903400-34907400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:34903400-34907600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:34903400-34907600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:34903400-34907800	Weak transcription	Fetal Stomach	stomach
42	chr6:34903400-34908200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:34903400-34923200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:34903600-34905200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:34903600-34907400	Weak transcription	Monocytes-CD14+_RO01746	blood

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