Variant report

Variant	rs17157391
Chromosome Location	chr11:62339853-62339854
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62337874..62344185-chr11:62431132..62441783,22	K562	blood:
2	chr11:62337261..62342687-chr11:62431505..62437310,11	MCF-7	breast:
3	chr11:62339516..62341399-chr11:62553487..62555685,2	MCF-7	breast:
4	chr11:62338750..62340905-chr11:62493319..62495398,2	MCF-7	breast:
5	chr11:62339742..62342662-chr11:62648785..62650735,2	K562	blood:
6	chr11:62337877..62349012-chr11:62352905..62362829,37	MCF-7	breast:
7	chr11:62338272..62340109-chr11:62437735..62440601,2	K562	blood:
8	chr11:62339818..62342516-chr11:62622172..62625340,3	MCF-7	breast:
9	chr11:62339264..62341444-chr11:62378101..62380412,2	MCF-7	breast:
10	chr11:62339379..62341659-chr11:62572398..62574456,3	MCF-7	breast:
11	chr11:62339643..62341464-chr11:62493039..62495603,2	MCF-7	breast:
12	chr11:62337874..62344102-chr11:62431342..62435931,16	K562	blood:
13	chr11:62339835..62342410-chr11:62387935..62390909,2	MCF-7	breast:
14	chr11:62339758..62342411-chr11:62437279..62439132,3	MCF-7	breast:
15	chr11:62339744..62342905-chr11:62605830..62609337,5	K562	blood:
16	chr11:62338845..62342709-chr11:62471391..62474986,4	K562	blood:
17	chr11:62339316..62344491-chr11:62604974..62610455,12	K562	blood:
18	chr11:62339404..62343149-chr11:62437801..62441524,6	MCF-7	breast:
19	chr11:62338989..62347081-chr11:62430108..62436394,14	MCF-7	breast:
20	chr11:62338925..62342513-chr11:62419437..62422643,3	K562	blood:
21	chr11:62337309..62341194-chr11:62606590..62609443,4	MCF-7	breast:
22	chr11:62339002..62343622-chr11:62418020..62422333,5	MCF-7	breast:
23	chr11:62313476..62315842-chr11:62339496..62341642,2	K562	blood:
24	chr11:62192809..62195884-chr11:62338964..62340742,3	K562	blood:
25	chr11:62310701..62316525-chr11:62336307..62345701,21	MCF-7	breast:
26	chr11:62339644..62342553-chr17:59475690..59477574,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162222	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000255446	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000162231	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17157390	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2956992	1.00[MEX][hapmap]
rs4343028	1.00[MEX][hapmap]
rs537602	1.00[MEX][hapmap]
rs61745121	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs631714	1.00[MEX][hapmap]
rs7104235	1.00[MEX][hapmap]
rs7114249	1.00[MEX][hapmap]
rs739793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926862	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription 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 miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription 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	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
7	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
9	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62322400-62340000	Strong transcription	Fetal Brain Female	brain
2	chr11:62328600-62340200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:62334800-62340200	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr11:62335200-62340000	Weak transcription	Stomach Mucosa	stomach
5	chr11:62335400-62340000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:62336800-62340800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:62337000-62340600	Transcr. at gene 5' and 3'	Hela-S3	cervix
8	chr11:62337200-62340000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:62337200-62340200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr11:62337600-62340000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:62337800-62340400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:62338000-62340000	Genic enhancers	Fetal Stomach	stomach
13	chr11:62338000-62340200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:62338600-62340400	Transcr. at gene 5' and 3'	NH-A	brain
15	chr11:62338600-62340600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:62338800-62340000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:62338800-62340000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:62338800-62340000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:62338800-62340000	Genic enhancers	Fetal Intestine Large	intestine
20	chr11:62338800-62340000	Genic enhancers	Fetal Lung	lung
21	chr11:62338800-62340000	Genic enhancers	Fetal Muscle Leg	muscle
22	chr11:62338800-62340000	Genic enhancers	Left Ventricle	heart
23	chr11:62338800-62340200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:62338800-62340200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:62338800-62340200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:62338800-62340600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
27	chr11:62338800-62340800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:62338800-62341000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:62338800-62341200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
30	chr11:62339000-62340000	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:62339000-62340000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:62339000-62340000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:62339000-62341200	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr11:62339200-62340000	Weak transcription	Brain Angular Gyrus	brain
35	chr11:62339200-62340000	Genic enhancers	Brain Cingulate Gyrus	brain
36	chr11:62339200-62340000	Genic enhancers	Fetal Intestine Small	intestine
37	chr11:62339200-62340000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:62339200-62340000	Genic enhancers	NHDF-Ad	bronchial
39	chr11:62339200-62340200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:62339200-62340200	Genic enhancers	Primary hematopoietic stem cells	blood
41	chr11:62339200-62340200	Genic enhancers	Fetal Thymus	thymus
42	chr11:62339200-62340200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
43	chr11:62339200-62340400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:62339200-62340400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
45	chr11:62339200-62340400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:62339200-62340600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
47	chr11:62339200-62340800	Transcr. at gene 5' and 3'	K562	blood
48	chr11:62339200-62341000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr11:62339200-62341200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
50	chr11:62339400-62340000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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