Variant report

Variant	rs632578
Chromosome Location	chr11:65781195-65781196
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65624802..65627661-chr11:65779805..65782359,2	MCF-7	breast:
2	chr11:65778738..65782540-chr11:65791690..65794306,3	MCF-7	breast:
3	chr11:65780273..65782876-chr11:65822009..65824161,2	K562	blood:
4	chr11:65684023..65687163-chr11:65778751..65782457,4	MCF-7	breast:
5	chr11:65780649..65783922-chr11:65810860..65813653,4	MCF-7	breast:
6	chr11:65781018..65783693-chr11:66000145..66002258,2	K562	blood:
7	chr11:65780378..65783041-chr11:65792155..65793993,2	MCF-7	breast:
8	chr11:65780844..65784041-chr11:65834496..65838705,4	MCF-7	breast:
9	chr11:65781033..65783841-chr11:65908931..65911172,2	MCF-7	breast:
10	chr11:65650838..65654244-chr11:65778689..65782514,4	MCF-7	breast:
11	chr11:65779081..65782393-chr11:65836476..65839425,3	MCF-7	breast:
12	chr11:65654636..65658395-chr11:65779993..65782935,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175294	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11227368	0.80[AMR][1000 genomes]
rs1151512	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1192168	0.81[AMR][1000 genomes]
rs12792888	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12794370	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12797319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs14157	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1786175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3016868	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35049625	0.84[EUR][1000 genomes]
rs470192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs491973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs493899	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs503524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs528736	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs538954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs542332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs550435	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs551659	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs552130	0.85[CEU][hapmap]
rs556643	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs559078	0.83[AMR][1000 genomes]
rs55928757	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56154109	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs566590	0.84[EUR][1000 genomes]
rs589253	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs593525	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs606978	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs613924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs624273	0.85[CEU][hapmap]
rs642293	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs649000	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs653914	0.83[CHB][hapmap]
rs655744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs659982	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs660118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs677029	0.83[CHB][hapmap]
rs679581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs688862	0.85[CEU][hapmap]
rs7105628	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65776800-65781400	Weak transcription	HSMMtube	muscle
2	chr11:65778200-65781600	Enhancers	Placenta	Placenta
3	chr11:65778800-65781200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:65778800-65781200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:65779000-65781200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr11:65779200-65782400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:65779600-65782600	Weak transcription	Lung	lung
8	chr11:65779800-65781600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:65779800-65782600	Weak transcription	Right Atrium	heart
10	chr11:65779800-65783200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:65780200-65781600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr11:65780400-65781200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:65780400-65781200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr11:65780400-65781200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:65780400-65781400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:65780400-65782600	Enhancers	HSMM	muscle
17	chr11:65780600-65781200	Flanking Active TSS	K562	blood
18	chr11:65780600-65781600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:65780600-65782400	Weak transcription	NH-A	brain
20	chr11:65780600-65783400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:65780800-65781200	Enhancers	Esophagus	oesophagus
22	chr11:65780800-65781600	Enhancers	Spleen	Spleen
23	chr11:65780800-65782200	Weak transcription	HUVEC	blood vessel
24	chr11:65780800-65782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:65780800-65782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:65780800-65782800	Weak transcription	Aorta	Aorta
27	chr11:65780800-65784000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:65780800-65788600	Weak transcription	NHEK	skin
29	chr11:65781000-65781200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:65781000-65781200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:65781000-65781200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:65781000-65781200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:65781000-65781600	Enhancers	Primary B cells from cord blood	blood
34	chr11:65781000-65781600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr11:65781000-65782200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:65781000-65782200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:65781000-65782200	Enhancers	Hela-S3	cervix
38	chr11:65781000-65782200	Weak transcription	HMEC	breast
39	chr11:65781000-65782400	Weak transcription	Osteobl	bone
40	chr11:65781000-65782600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:65781000-65782600	Weak transcription	A549	lung
42	chr11:65781000-65782800	Weak transcription	Right Ventricle	heart

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