Variant report

Variant	rs602498
Chromosome Location	chr11:86403375-86403376
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	chr11:86402633..86405322-chr11:86405764..86408374,2	MCF-7	breast:
2	chr11:86402660..86405592-chr11:86510747..86513593,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501626	0.93[CHB][hapmap]
rs10898526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11234738	0.92[ASN][1000 genomes]
rs11234739	0.91[ASN][1000 genomes]
rs11234741	0.92[ASN][1000 genomes]
rs11234743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11234744	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11234745	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11234746	0.90[ASN][1000 genomes]
rs12574672	0.94[ASN][1000 genomes]
rs12575285	0.93[CHB][hapmap]
rs12789412	0.92[ASN][1000 genomes]
rs17211458	0.93[CHB][hapmap]
rs17818845	0.87[CHB][hapmap]
rs17819523	0.93[CHB][hapmap]
rs17819683	0.93[CHB][hapmap]
rs1945142	0.93[CHB][hapmap]
rs2433412	0.91[ASN][1000 genomes]
rs2433413	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2433414	0.90[ASN][1000 genomes]
rs2433415	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4619178	0.91[ASN][1000 genomes]
rs539214	0.87[CHB][hapmap]
rs543336	0.93[ASN][1000 genomes]
rs544199	0.93[ASN][1000 genomes]
rs575273	0.95[ASN][1000 genomes]
rs575468	0.95[ASN][1000 genomes]
rs600242	0.93[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs659301	0.87[CHB][hapmap]
rs66878934	0.87[ASN][1000 genomes]
rs672266	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs67655324	0.89[ASN][1000 genomes]
rs72959431	0.81[ASN][1000 genomes]
rs72961766	0.86[ASN][1000 genomes]
rs72961771	0.94[ASN][1000 genomes]
rs746491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7933920	0.93[ASN][1000 genomes]
rs7939319	0.92[ASN][1000 genomes]
rs7948924	0.90[ASN][1000 genomes]
rs949348	0.92[ASN][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	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	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86385200-86411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:86388000-86409600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:86390000-86403600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:86393000-86406800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:86398800-86405400	Weak transcription	Hela-S3	cervix
7	chr11:86399600-86415800	Weak transcription	Fetal Heart	heart
8	chr11:86399800-86406400	Weak transcription	HUVEC	blood vessel
9	chr11:86399800-86406600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:86400000-86403400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:86400000-86403400	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:86400600-86405000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:86400600-86405000	Weak transcription	HSMMtube	muscle
14	chr11:86400600-86406600	Weak transcription	Aorta	Aorta
15	chr11:86400600-86406600	Weak transcription	Left Ventricle	heart
16	chr11:86400600-86406600	Weak transcription	Right Ventricle	heart
17	chr11:86400600-86410800	Weak transcription	Psoas Muscle	Psoas
18	chr11:86400600-86414800	Weak transcription	Ovary	ovary
19	chr11:86400800-86405000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:86402800-86403400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:86402800-86403400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:86402800-86404000	Enhancers	A549	lung
23	chr11:86402800-86404200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:86402800-86404400	Enhancers	HMEC	breast
25	chr11:86402800-86404400	Enhancers	NHEK	skin
26	chr11:86402800-86404600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:86402800-86407600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:86402800-86408000	Enhancers	HSMM	muscle
29	chr11:86402800-86408600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:86402800-86410600	Enhancers	NHDF-Ad	bronchial
31	chr11:86403000-86403400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:86403000-86404200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:86403000-86404400	Enhancers	NH-A	brain
34	chr11:86403000-86404800	Enhancers	NHLF	lung
35	chr11:86403000-86405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:86403000-86406600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:86403000-86406800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:86403000-86408000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:86403200-86404600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:86403200-86405600	Enhancers	Rectal Smooth Muscle	rectum
41	chr11:86403200-86408000	Enhancers	Osteobl	bone

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