Variant report

Variant	rs7129663
Chromosome Location	chr11:73045129-73045130
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73004298..73006614-chr11:73044589..73046536,2	MCF-7	breast:
2	chr11:73044977..73046880-chr11:73100107..73101964,2	K562	blood:
3	chr11:73044251..73046062-chr11:73085931..73088369,2	MCF-7	breast:
4	chr11:73032442..73034881-chr11:73042060..73045731,3	K562	blood:
5	chr11:73042602..73045462-chr11:73088644..73091188,2	K562	blood:
6	chr11:73038301..73040651-chr11:73040971..73045246,4	K562	blood:
7	chr11:73002634..73004263-chr11:73044933..73046630,2	MCF-7	breast:
8	chr11:73020988..73023287-chr11:73043427..73045188,2	K562	blood:
9	chr11:73033372..73035605-chr11:73043238..73045918,2	K562	blood:
10	chr11:73041736..73046932-chr11:73048658..73054905,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000110237	Chromatin interaction
ENSG00000171631	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10898917	0.90[EUR][1000 genomes]
rs12099129	0.84[EUR][1000 genomes]
rs1892855	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027760	0.87[EUR][1000 genomes]
rs2027761	0.85[EUR][1000 genomes]
rs2027763	0.82[EUR][1000 genomes]
rs3741149	1.00[EUR][1000 genomes]
rs3741151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741152	0.82[EUR][1000 genomes]
rs57893472	0.99[EUR][1000 genomes]
rs60078907	1.00[ASN][1000 genomes]
rs60924672	0.81[EUR][1000 genomes]
rs61037777	0.94[EUR][1000 genomes]
rs61705659	0.83[EUR][1000 genomes]
rs7102787	0.85[EUR][1000 genomes]
rs7105681	0.84[EUR][1000 genomes]
rs7105705	0.85[EUR][1000 genomes]
rs7115806	0.83[EUR][1000 genomes]
rs7122825	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125949	0.82[EUR][1000 genomes]
rs7125978	0.87[EUR][1000 genomes]
rs73542929	0.83[EUR][1000 genomes]
rs7930454	1.00[ASN][1000 genomes]
rs7930880	0.85[EUR][1000 genomes]
rs7941454	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947515	0.81[EUR][1000 genomes]
rs7949364	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73033200-73045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:73033200-73045600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:73035200-73045800	Weak transcription	Fetal Brain Male	brain
4	chr11:73037400-73046200	Weak transcription	Brain Angular Gyrus	brain
5	chr11:73038000-73047000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:73038600-73047000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:73038800-73047000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:73039600-73046400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:73040400-73046800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:73040600-73047000	Enhancers	NHDF-Ad	bronchial
11	chr11:73040800-73045200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:73040800-73045200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr11:73040800-73045400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:73040800-73045400	Enhancers	NH-A	brain
15	chr11:73040800-73045800	Enhancers	Rectal Smooth Muscle	rectum
16	chr11:73040800-73046000	Enhancers	Fetal Lung	lung
17	chr11:73040800-73047000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:73040800-73047000	Enhancers	Fetal Kidney	kidney
19	chr11:73040800-73047200	Enhancers	Fetal Heart	heart
20	chr11:73041000-73045200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:73041000-73045800	Enhancers	Adipose Nuclei	Adipose
22	chr11:73041000-73046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:73041000-73047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:73041000-73047000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:73041400-73045800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:73041400-73047000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:73041400-73047000	Enhancers	Fetal Muscle Leg	muscle
28	chr11:73041400-73047000	Enhancers	Placenta	Placenta
29	chr11:73041600-73045600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:73041600-73046200	Enhancers	Ovary	ovary
31	chr11:73041600-73046400	Enhancers	Left Ventricle	heart
32	chr11:73041600-73046600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:73041600-73046800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:73041600-73047000	Enhancers	Right Ventricle	heart
35	chr11:73041600-73047000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:73041800-73045800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:73041800-73046600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:73042000-73045200	Enhancers	A549	lung
39	chr11:73042000-73047000	Genic enhancers	Fetal Stomach	stomach
40	chr11:73042200-73045400	Weak transcription	Fetal Brain Female	brain
41	chr11:73042200-73046400	Weak transcription	Small Intestine	intestine
42	chr11:73042400-73045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:73042400-73045400	Weak transcription	Esophagus	oesophagus
44	chr11:73042400-73047000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:73042400-73047000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr11:73042600-73045600	Weak transcription	Brain Germinal Matrix	brain
47	chr11:73042600-73045600	Weak transcription	Fetal Thymus	thymus
48	chr11:73042600-73045600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:73042600-73046400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:73042600-73047000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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