Variant report

Variant	rs12417770
Chromosome Location	chr11:67076748-67076749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:
2	chr11:66886660..66888352-chr11:67075399..67077454,2	K562	blood:
3	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
4	chr11:67074098..67077679-chr11:67077788..67081102,4	K562	blood:

Variant related genes	Relation type
ENSG00000172932	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12279818	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12285097	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12417116	0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12417968	1.00[EUR][1000 genomes]
rs12418407	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12420556	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12420594	0.82[AMR][1000 genomes]
rs12421018	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12421536	0.82[AMR][1000 genomes]
rs1573536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574103	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17148080	0.82[AMR][1000 genomes]
rs17148183	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17880138	0.86[ASN][1000 genomes]
rs17885585	0.86[ASN][1000 genomes]
rs2066494	0.86[ASN][1000 genomes]
rs28364240	0.88[AMR][1000 genomes]
rs3730140	0.97[AMR][1000 genomes]
rs4084238	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4382915	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4567468	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4616043	1.00[EUR][1000 genomes]
rs4930198	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930414	0.82[AMR][1000 genomes]
rs4930415	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930416	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61525626	0.82[AMR][1000 genomes]
rs61731786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61758493	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61759803	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61759806	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7396248	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs868167	0.80[ASN][1000 genomes]
rs885833	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs887315	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs887316	0.86[ASN][1000 genomes]
rs887318	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
7	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
10	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
12	nsv897803	chr11:67067075-67084761	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67069200-67079200	Weak transcription	K562	blood
2	chr11:67070200-67084400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67070400-67083800	Weak transcription	Dnd41	blood
4	chr11:67071800-67084400	Weak transcription	Fetal Kidney	kidney
5	chr11:67072000-67080000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:67072000-67084000	Weak transcription	HUVEC	blood vessel
7	chr11:67072200-67076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:67072200-67079800	Weak transcription	Primary T cells from cord blood	blood
9	chr11:67072200-67084000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:67072200-67084000	Weak transcription	Brain Germinal Matrix	brain
11	chr11:67072200-67084400	Weak transcription	Fetal Brain Female	brain
12	chr11:67072400-67077200	Weak transcription	Left Ventricle	heart
13	chr11:67072400-67077600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:67072400-67078400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:67072400-67079800	Strong transcription	Fetal Intestine Small	intestine
16	chr11:67072400-67080000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:67072400-67084400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:67072400-67084400	Weak transcription	HSMMtube	muscle
19	chr11:67072400-67084400	Weak transcription	NHDF-Ad	bronchial
20	chr11:67072400-67084600	Weak transcription	Small Intestine	intestine
21	chr11:67072600-67077000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:67072600-67078000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:67072600-67078200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:67072600-67078200	Weak transcription	Stomach Mucosa	stomach
25	chr11:67073200-67077000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:67073200-67078000	Strong transcription	Spleen	Spleen
27	chr11:67073200-67079000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:67073200-67080200	Weak transcription	HepG2	liver
29	chr11:67073200-67080400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:67073400-67077200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:67073400-67077200	Strong transcription	Hela-S3	cervix
32	chr11:67073400-67084400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:67073600-67081000	Strong transcription	Fetal Stomach	stomach
34	chr11:67073800-67077400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:67073800-67079400	Strong transcription	Pancreas	Pancrea
36	chr11:67073800-67079600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:67074000-67078200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:67074000-67079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:67074200-67077600	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr11:67074200-67078400	Strong transcription	Colonic Mucosa	Colon
41	chr11:67074200-67078400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr11:67074200-67078800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr11:67074200-67079200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:67074200-67079200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:67074200-67079200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:67074200-67079400	Strong transcription	Fetal Intestine Large	intestine
47	chr11:67074200-67079600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:67074200-67079600	Strong transcription	Gastric	stomach
49	chr11:67074400-67077200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:67074400-67078400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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