Variant report

Variant	rs7744828
Chromosome Location	chr6:110503531-110503532
allele	A/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	SPI1	chr6:110503493-110503748	K562	blood:	n/a	n/a
2	CTCF	chr6:110503480-110503630	HEEpiC	esophagus:	n/a	n/a
3	TEAD4	chr6:110503499-110503903	K562	blood:	n/a	n/a
4	SPI1	chr6:110503451-110503880	HL-60	blood:	n/a	n/a
5	WRNIP1	chr6:110503527-110503638	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:110503010..110505161-chr6:110508966..110510597,2	MCF-7	breast:

Variant related genes	Relation type
WASF1	TF binding region

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

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

rs_ID	r²[population]
rs11153226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11751590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs11757055	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]
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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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	1.00[JPT][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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4945850	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4945851	0.92[CHB][hapmap];0.92[JPT][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[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];0.99[ASN][1000 genomes]
rs4947058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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[JPT][hapmap]
rs6913554	0.93[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915379	0.93[ASN][1000 genomes]
rs6918148	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][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	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6927722	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][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];1.00[JPT][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]
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];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];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
rs7744828	WASF1	cis	Artery Tibial	GTEx
rs7744828	WASF1	cis	Muscle Skeletal	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110499600-110503800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:110501800-110503600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr6:110502000-110503600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:110502000-110503800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr6:110502000-110503800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:110502000-110504600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:110502200-110503600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:110502200-110503600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:110502200-110503600	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr6:110502200-110503600	Flanking Active TSS	Fetal Brain Female	brain
11	chr6:110502200-110503600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:110502200-110503600	Enhancers	Spleen	Spleen
13	chr6:110502200-110503800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr6:110502200-110503800	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr6:110502200-110503800	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr6:110502200-110504000	Flanking Active TSS	Dnd41	blood
17	chr6:110502400-110503600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:110502400-110503800	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr6:110502400-110504600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr6:110502400-110504600	Enhancers	Small Intestine	intestine
21	chr6:110502600-110503800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:110502600-110504000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:110502600-110504000	Enhancers	Fetal Intestine Small	intestine
24	chr6:110502600-110504600	Enhancers	Fetal Heart	heart
25	chr6:110502600-110504800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:110502600-110504800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:110502600-110504800	Enhancers	Fetal Brain Male	brain
28	chr6:110502600-110504800	Enhancers	Stomach Mucosa	stomach
29	chr6:110502600-110515000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:110502600-110533200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:110502600-110536600	Weak transcription	Esophagus	oesophagus
32	chr6:110502800-110503600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:110502800-110503600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:110502800-110503600	Weak transcription	Aorta	Aorta
35	chr6:110502800-110503600	Enhancers	Fetal Muscle Leg	muscle
36	chr6:110502800-110503600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr6:110502800-110503600	Flanking Active TSS	GM12878-XiMat	blood
38	chr6:110502800-110503800	Enhancers	Fetal Intestine Large	intestine
39	chr6:110502800-110504000	Weak transcription	Colonic Mucosa	Colon
40	chr6:110502800-110504200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:110502800-110506400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:110502800-110508400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr6:110502800-110513800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:110502800-110533400	Weak transcription	HSMMtube	muscle
45	chr6:110503000-110503600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:110503000-110503600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
47	chr6:110503000-110503600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:110503000-110503600	Enhancers	Brain Germinal Matrix	brain
49	chr6:110503000-110503600	Enhancers	Right Atrium	heart
50	chr6:110503000-110504400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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