Variant report

Variant	rs1638570
Chromosome Location	chr11:67146986-67146987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67083205..67091159-chr11:67142322..67150295,9	MCF-7	breast:
2	chr11:67076545..67078084-chr11:67145877..67147732,2	MCF-7	breast:
3	chr11:67055922..67058798-chr11:67144974..67147579,3	MCF-7	breast:
4	chr11:67032188..67034650-chr11:67145726..67148631,2	MCF-7	breast:
5	chr11:67117727..67123656-chr11:67146107..67152215,12	K562	blood:
6	chr11:67028634..67031744-chr11:67145224..67149338,6	MCF-7	breast:
7	chr11:66821940..66824182-chr11:67145187..67147338,3	MCF-7	breast:
8	chr11:67080526..67082690-chr11:67144959..67147019,2	MCF-7	breast:
9	chr11:67146395..67148840-chr11:67151114..67153909,2	K562	blood:
10	chr11:67036762..67038844-chr11:67146175..67147887,2	K562	blood:
11	chr11:67032807..67039777-chr11:67144727..67150865,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172830	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10896175	1.00[EUR][1000 genomes]
rs11227796	1.00[EUR][1000 genomes]
rs11227804	1.00[EUR][1000 genomes]
rs12293606	1.00[EUR][1000 genomes]
rs1382089	1.00[EUR][1000 genomes]
rs1618605	1.00[EUR][1000 genomes]
rs1620333	1.00[EUR][1000 genomes]
rs1624189	1.00[EUR][1000 genomes]
rs1625032	1.00[EUR][1000 genomes]
rs1625892	1.00[EUR][1000 genomes]
rs1630068	1.00[EUR][1000 genomes]
rs1632616	1.00[EUR][1000 genomes]
rs1638558	1.00[EUR][1000 genomes]
rs1638559	1.00[EUR][1000 genomes]
rs1638560	1.00[EUR][1000 genomes]
rs1638561	1.00[EUR][1000 genomes]
rs1638562	1.00[EUR][1000 genomes]
rs1638563	1.00[EUR][1000 genomes]
rs1638572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638575	1.00[EUR][1000 genomes]
rs1638576	1.00[EUR][1000 genomes]
rs1638577	1.00[EUR][1000 genomes]
rs1638581	1.00[EUR][1000 genomes]
rs1638584	1.00[EUR][1000 genomes]
rs1638587	1.00[EUR][1000 genomes]
rs1790729	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790730	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1790734	1.00[EUR][1000 genomes]
rs1790736	1.00[EUR][1000 genomes]
rs1790741	1.00[EUR][1000 genomes]
rs1790743	1.00[EUR][1000 genomes]
rs1790744	1.00[EUR][1000 genomes]
rs1790745	1.00[EUR][1000 genomes]
rs1790749	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1790750	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1790754	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1790756	1.00[EUR][1000 genomes]
rs1790763	1.00[EUR][1000 genomes]
rs1790764	1.00[EUR][1000 genomes]
rs1790765	1.00[EUR][1000 genomes]
rs2511058	1.00[EUR][1000 genomes]
rs2511059	1.00[EUR][1000 genomes]
rs2514013	1.00[EUR][1000 genomes]
rs2514014	1.00[EUR][1000 genomes]
rs2514262	1.00[EUR][1000 genomes]
rs2514263	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35363135	1.00[EUR][1000 genomes]
rs56050553	1.00[EUR][1000 genomes]
rs56173916	1.00[EUR][1000 genomes]
rs56405884	1.00[EUR][1000 genomes]
rs56973649	1.00[EUR][1000 genomes]
rs57047868	1.00[EUR][1000 genomes]
rs57748654	1.00[EUR][1000 genomes]
rs57749415	1.00[EUR][1000 genomes]
rs57757103	1.00[EUR][1000 genomes]
rs57946225	1.00[EUR][1000 genomes]
rs57955602	1.00[EUR][1000 genomes]
rs58999825	1.00[EUR][1000 genomes]
rs596431	1.00[EUR][1000 genomes]
rs596944	1.00[EUR][1000 genomes]
rs601363	1.00[EUR][1000 genomes]
rs60136955	1.00[EUR][1000 genomes]
rs60251934	1.00[EUR][1000 genomes]
rs602720	1.00[EUR][1000 genomes]
rs604540	1.00[EUR][1000 genomes]
rs60751057	1.00[EUR][1000 genomes]
rs611697	1.00[EUR][1000 genomes]
rs61282424	1.00[EUR][1000 genomes]
rs61429992	1.00[EUR][1000 genomes]
rs61610719	1.00[EUR][1000 genomes]
rs618633	1.00[EUR][1000 genomes]
rs641081	1.00[EUR][1000 genomes]
rs7104627	1.00[EUR][1000 genomes]
rs7121803	1.00[EUR][1000 genomes]
rs7124630	1.00[EUR][1000 genomes]
rs73490545	1.00[EUR][1000 genomes]
rs73490554	1.00[EUR][1000 genomes]
rs73493529	1.00[EUR][1000 genomes]
rs73493531	1.00[EUR][1000 genomes]
rs73501797	1.00[EUR][1000 genomes]
rs73501800	1.00[EUR][1000 genomes]
rs73506004	1.00[EUR][1000 genomes]
rs73506015	1.00[EUR][1000 genomes]
rs73506054	1.00[EUR][1000 genomes]
rs73506056	1.00[EUR][1000 genomes]
rs73506069	1.00[EUR][1000 genomes]
rs73506074	1.00[EUR][1000 genomes]
rs743679	1.00[EUR][1000 genomes]
rs8191436	1.00[EUR][1000 genomes]
rs8191446	1.00[EUR][1000 genomes]
rs8191449	1.00[EUR][1000 genomes]
rs949250	1.00[EUR][1000 genomes]
rs949251	1.00[EUR][1000 genomes]
rs949252	1.00[EUR][1000 genomes]
rs949253	1.00[EUR][1000 genomes]
rs949254	1.00[EUR][1000 genomes]
rs949255	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
6	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
7	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
8	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
9	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
10	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
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription 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	122 gene(s)	inside rSNPs	diseases
13	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67141800-67152200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:67142000-67147600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:67142000-67147600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:67142000-67149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:67142400-67147000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:67142600-67147600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:67142600-67147800	Enhancers	HMEC	breast
8	chr11:67143200-67148000	Weak transcription	Primary B cells from cord blood	blood
9	chr11:67143200-67152000	Weak transcription	HSMMtube	muscle
10	chr11:67143400-67149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:67143600-67149800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:67143600-67150000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:67143800-67152200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:67144600-67147600	Enhancers	NHDF-Ad	bronchial
15	chr11:67144600-67148600	Enhancers	NHEK	skin
16	chr11:67144600-67149800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:67144600-67150200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:67144800-67147600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:67145000-67147400	Bivalent Enhancer	Fetal Stomach	stomach
20	chr11:67145000-67147600	Enhancers	HSMM	muscle
21	chr11:67145200-67158400	Weak transcription	Right Atrium	heart
22	chr11:67145400-67149800	Weak transcription	Right Ventricle	heart
23	chr11:67145400-67152200	Weak transcription	Pancreas	Pancrea
24	chr11:67145600-67149200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:67145800-67147200	Enhancers	Esophagus	oesophagus
26	chr11:67146000-67147400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:67146000-67147600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:67146000-67147600	Flanking Active TSS	Hela-S3	cervix
29	chr11:67146000-67148200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:67146000-67148800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:67146000-67150200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:67146000-67150200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:67146000-67150200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:67146200-67147200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:67146200-67147400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:67146200-67147400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:67146200-67147600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:67146200-67147600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:67146200-67147600	Enhancers	Fetal Intestine Large	intestine
40	chr11:67146200-67147600	Enhancers	Fetal Intestine Small	intestine
41	chr11:67146200-67147600	Enhancers	NH-A	brain
42	chr11:67146200-67148800	Enhancers	Primary B cells from peripheral blood	blood
43	chr11:67146400-67147000	Enhancers	Primary hematopoietic stem cells	blood
44	chr11:67146400-67147000	Genic enhancers	Spleen	Spleen
45	chr11:67146400-67147200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr11:67146400-67147200	ZNF genes & repeats	Lung	lung
47	chr11:67146400-67147400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:67146400-67147600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:67146400-67147600	Enhancers	Placenta	Placenta
50	chr11:67146400-67148400	Enhancers	Primary neutrophils fromperipheralblood	blood

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