Variant report

Variant	rs11757055
Chromosome Location	chr6:110504680-110504681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:110504471-110504824	K562	blood:	n/a	chr6:110504521-110504533
2	CEBPB	chr6:110504604-110504793	A549	lung:	n/a	n/a
3	CEBPB	chr6:110504496-110504831	Hela-S3	cervix:	n/a	chr6:110504521-110504533
4	CEBPB	chr6:110504494-110504843	K562	blood:	n/a	chr6:110504521-110504533

No.	Distal block	Cell Line	Cell type
1	chr6:110504485..110506150-chr6:110519955..110521722,2	MCF-7	breast:
2	chr6:110500660..110502175-chr6:110504680..110507002,2	MCF-7	breast:
3	chr6:110503010..110505161-chr6:110508966..110510597,2	MCF-7	breast:

Variant related genes	Relation type
WASF1	TF binding region
ENSG00000112290	Chromatin interaction
ENSG00000168438	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11153226	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11751590	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12110744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12660119	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12660791	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[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];0.95[ASN][1000 genomes]
rs12662013	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12665849	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12665858	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1462490	0.82[ASN][1000 genomes]
rs1462492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1462493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2002630	0.90[ASN][1000 genomes]
rs4257894	0.84[ASW][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4299857	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4339500	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4509164	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4945850	0.84[ASW][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4945851	0.92[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4947048	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947051	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];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4947058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56122480	0.95[ASN][1000 genomes]
rs56135788	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56287427	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57983455	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60495849	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61020234	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6568633	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6568634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6913554	0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915379	0.93[ASN][1000 genomes]
rs6918148	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6925392	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6926540	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6927667	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6927697	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6927722	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6928684	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6938106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6938139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6938653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719849	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73533834	0.82[ASN][1000 genomes]
rs73535810	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73535817	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73535821	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73535837	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73535838	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73537927	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73537938	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73537949	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7744828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7766850	0.88[ASN][1000 genomes]
rs9374156	0.82[ASN][1000 genomes]
rs9384735	0.81[ASN][1000 genomes]
rs9400359	0.82[ASN][1000 genomes]
rs9400360	0.82[ASN][1000 genomes]
rs9481045	0.83[ASN][1000 genomes]
rs9481047	0.93[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9481048	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9487317	0.88[ASN][1000 genomes]
rs9487318	0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9487319	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9487321	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886535	chr6:110377006-110551463	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv2757188	chr6:110389926-110504680	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2759462	chr6:110389926-110504680	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1792799	chr6:110411065-110566597	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv948824	chr6:110443685-110889332	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11757055	WASF1	cis	Artery Tibial	GTEx
rs11757055	WASF1	cis	Muscle Skeletal	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110502600-110504800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:110502600-110504800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:110502600-110504800	Enhancers	Fetal Brain Male	brain
4	chr6:110502600-110504800	Enhancers	Stomach Mucosa	stomach
5	chr6:110502600-110515000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:110502600-110533200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:110502600-110536600	Weak transcription	Esophagus	oesophagus
8	chr6:110502800-110506400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:110502800-110508400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:110502800-110513800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:110502800-110533400	Weak transcription	HSMMtube	muscle
12	chr6:110503000-110504800	Enhancers	Thymus	Thymus
13	chr6:110503000-110505000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:110503000-110505000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:110503200-110504800	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:110503200-110504800	Enhancers	Ovary	ovary
17	chr6:110503200-110504800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:110503200-110505200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:110503200-110506400	Enhancers	Adipose Nuclei	Adipose
20	chr6:110503200-110508600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:110503200-110511600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:110503200-110511800	Weak transcription	Right Ventricle	heart
23	chr6:110503200-110514800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:110503200-110515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:110503200-110531400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:110503200-110533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:110503400-110504800	Enhancers	NHDF-Ad	bronchial
28	chr6:110503400-110505000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:110503400-110505000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:110503400-110505200	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr6:110503400-110505200	Enhancers	NHLF	lung
32	chr6:110503400-110505400	Weak transcription	Brain Substantia Nigra	brain
33	chr6:110503400-110505400	Enhancers	HepG2	liver
34	chr6:110503400-110506400	Enhancers	Fetal Lung	lung
35	chr6:110503400-110506800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr6:110503400-110509000	Enhancers	Liver	Liver
37	chr6:110503400-110512000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:110503400-110515000	Weak transcription	Placenta	Placenta
39	chr6:110503400-110515000	Weak transcription	NH-A	brain
40	chr6:110503400-110530600	Weak transcription	Fetal Kidney	kidney
41	chr6:110503400-110536600	Weak transcription	Gastric	stomach
42	chr6:110503600-110504800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:110503600-110504800	Genic enhancers	Primary T cells from cord blood	blood
44	chr6:110503600-110504800	Enhancers	Aorta	Aorta
45	chr6:110503600-110505000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:110503600-110505400	Enhancers	Colon Smooth Muscle	Colon
47	chr6:110503600-110514400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:110503600-110514400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:110503600-110514400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:110503600-110515200	Weak transcription	Rectal Mucosa Donor 31	rectum

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