Variant report

Variant	rs723779
Chromosome Location	chr11:3996247-3996248
allele	A/G
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	GATA3	chr11:3996237-3996437	SH-SY5Y	brain:	n/a	chr11:3996360-3996370 chr11:3996357-3996373 chr11:3996357-3996373 chr11:3996355-3996376
2	RCOR1	chr11:3996187-3996388	K562	blood:	n/a	n/a
3	TAL1	chr11:3996246-3996446	K562	blood:	n/a	n/a
4	MYC	chr11:3996210-3996291	K562	blood:	n/a	n/a
5	GATA2	chr11:3996192-3996410	SH-SY5Y	brain:	n/a	chr11:3996360-3996370 chr11:3996357-3996373 chr11:3996357-3996373 chr11:3996355-3996376

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3991210..3992944-chr11:3996027..3998570,2	K562	blood:
2	chr11:3991210..3994913-chr11:3996027..3998429,3	K562	blood:

Variant related genes	Relation type
HNRNPA1P76	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10430939	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs10458900	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs10500591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10500592	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs10835508	0.84[YRI][hapmap]
rs11030251	0.89[ASN][1000 genomes]
rs11030286	0.89[ASN][1000 genomes]
rs11030326	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11030327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11030366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11030417	0.92[ASN][1000 genomes]
rs11030418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs11030453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11030478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030479	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030481	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030485	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11030639	0.91[YRI][hapmap]
rs11030697	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs11030796	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs11525342	0.84[ASN][1000 genomes]
rs11529865	0.84[ASN][1000 genomes]
rs12222250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12224469	0.88[ASN][1000 genomes]
rs1372803	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs16929410	0.81[CHB][hapmap]
rs16929438	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs16929467	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs16929477	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs16929480	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs16929488	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs16929492	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs16929529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929540	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929542	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16929546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929616	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16929653	0.82[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1822286	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs2167563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3750994	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs4910878	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs55679086	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55978228	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56126231	0.92[ASN][1000 genomes]
rs59195871	0.89[ASN][1000 genomes]
rs60930198	0.83[ASN][1000 genomes]
rs61897162	0.88[ASN][1000 genomes]
rs61897163	0.89[ASN][1000 genomes]
rs61897164	0.89[ASN][1000 genomes]
rs61897166	0.93[ASN][1000 genomes]
rs61897167	0.91[ASN][1000 genomes]
rs61897170	0.91[ASN][1000 genomes]
rs61897171	0.91[ASN][1000 genomes]
rs61897194	0.91[ASN][1000 genomes]
rs61897195	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61897201	0.96[ASN][1000 genomes]
rs61897202	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61897203	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61897234	0.83[ASN][1000 genomes]
rs61897237	0.81[ASN][1000 genomes]
rs6578421	0.81[YRI][hapmap]
rs6578423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72851736	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs750526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7928117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7934581	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs7941743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894454	1.00[CEU][hapmap];0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
3	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
4	chr11:3982600-4004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:3982600-4005600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:3982600-4006000	Weak transcription	Left Ventricle	heart
7	chr11:3984000-4010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:3985000-4002400	Weak transcription	NHDF-Ad	bronchial
9	chr11:3985800-4001200	Weak transcription	Small Intestine	intestine
10	chr11:3986000-4008000	Weak transcription	HepG2	liver
11	chr11:3987000-4010400	Weak transcription	Fetal Intestine Small	intestine
12	chr11:3987200-4001600	Weak transcription	Gastric	stomach
13	chr11:3988000-4002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:3988200-4006200	Weak transcription	Pancreas	Pancrea
15	chr11:3989400-3997600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:3989400-4010600	Weak transcription	Spleen	Spleen
17	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
18	chr11:3989800-4002400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:3989800-4006000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:3989800-4006200	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:3989800-4006600	Weak transcription	Liver	Liver
22	chr11:3990000-4002000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:3990400-3996600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:3990400-4006000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:3990600-3996600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:3990600-4000600	Weak transcription	Primary B cells from cord blood	blood
27	chr11:3991200-4000800	Weak transcription	Ovary	ovary
28	chr11:3991200-4002400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:3991200-4004400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:3991200-4006200	Weak transcription	Adipose Nuclei	Adipose
31	chr11:3991400-4003000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:3991600-4000000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:3991600-4000400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:3991600-4002800	Weak transcription	Dnd41	blood
35	chr11:3991600-4003800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:3991600-4004400	Weak transcription	GM12878-XiMat	blood
37	chr11:3991800-3999000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:3991800-4000000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:3992800-3998200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:3993200-4000000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:3993200-4003800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:3993400-3998400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:3993400-3998400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:3993400-4000400	Weak transcription	Primary T cells from cord blood	blood
45	chr11:3993600-3998800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:3993600-4000000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:3993800-3999800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:3993800-4003600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:3994400-4016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:3994600-3999200	Weak transcription	Primary T cells fromperipheralblood	blood

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