Variant report

Variant	rs2445581
Chromosome Location	chr11:86795718-86795719
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86666646..86669098-chr11:86793601..86796453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246523	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10792903	1.00[CHB][hapmap]
rs2124577	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2124579	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2374996	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445537	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445538	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445543	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445549	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2445558	0.84[ASN][1000 genomes]
rs2445564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445565	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2445570	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451066	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512335	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512347	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2512364	0.81[ASN][1000 genomes]
rs2512370	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512371	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512373	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512379	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512392	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2512478	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs2512486	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2512498	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512502	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2513206	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513208	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513220	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513225	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2513232	0.83[JPT][hapmap]
rs2513234	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3740659	0.91[JPT][hapmap]
rs7481222	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs965467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv468776	chr11:86788716-86826422	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv555706	chr11:86788716-86826422	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv468777	chr11:86794856-86985581	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv555707	chr11:86794856-86985581	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86770400-86808200	Weak transcription	HUVEC	blood vessel
2	chr11:86774800-86806400	Weak transcription	Small Intestine	intestine
3	chr11:86776600-86815600	Weak transcription	HSMMtube	muscle
4	chr11:86783000-86814000	Weak transcription	Hela-S3	cervix
5	chr11:86783200-86799000	Weak transcription	Psoas Muscle	Psoas
6	chr11:86787400-86819600	Weak transcription	NH-A	brain
7	chr11:86787600-86804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:86787600-86825200	Weak transcription	Brain Substantia Nigra	brain
9	chr11:86787800-86797200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:86787800-86797200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:86787800-86798200	Weak transcription	Spleen	Spleen
12	chr11:86787800-86804000	Weak transcription	Fetal Intestine Large	intestine
13	chr11:86787800-86817400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:86787800-86819400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:86788000-86797200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:86788000-86797200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:86788000-86797200	Weak transcription	Esophagus	oesophagus
18	chr11:86788000-86797200	Weak transcription	Fetal Intestine Small	intestine
19	chr11:86788000-86797200	Weak transcription	Fetal Thymus	thymus
20	chr11:86788000-86797200	Weak transcription	Thymus	Thymus
21	chr11:86788000-86798400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:86788000-86800000	Weak transcription	Brain Germinal Matrix	brain
23	chr11:86788000-86800000	Weak transcription	Gastric	stomach
24	chr11:86788000-86803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:86788000-86803600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:86788000-86804200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:86788000-86804200	Weak transcription	Aorta	Aorta
28	chr11:86788000-86807000	Weak transcription	Pancreas	Pancrea
29	chr11:86788000-86808600	Weak transcription	Left Ventricle	heart
30	chr11:86788200-86796800	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:86788200-86797800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:86788200-86797800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:86788200-86808400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:86788200-86817800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:86788200-86824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:86788200-86830400	Weak transcription	Right Ventricle	heart
37	chr11:86788400-86803000	Weak transcription	NHDF-Ad	bronchial
38	chr11:86788400-86807800	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:86788600-86797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:86788600-86802600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:86788600-86804200	Weak transcription	Placenta	Placenta
42	chr11:86788600-86806000	Weak transcription	A549	lung
43	chr11:86788600-86836400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:86789000-86797200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:86789000-86797600	Weak transcription	K562	blood
46	chr11:86789000-86802600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:86789200-86805600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:86790000-86803400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:86790200-86797200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:86790400-86796400	Weak transcription	Fetal Stomach	stomach

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