Variant report

Variant	rs619829
Chromosome Location	chr11:86381673-86381674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86378621..86386201-chr11:86413884..86420246,14	MCF-7	breast:
2	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
3	chr11:86369970..86372243-chr11:86379916..86381989,2	K562	blood:
4	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254731	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12281596	1.00[ASN][1000 genomes]
rs480290	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs484481	1.00[ASN][1000 genomes]
rs503195	1.00[ASN][1000 genomes]
rs530278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs561363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs566633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs591474	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs595031	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs642780	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs643157	1.00[ASN][1000 genomes]
rs661115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs668984	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs672280	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs673118	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs674481	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs688079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	nsv555704	chr11:86344677-86386784	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86369800-86382000	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:86370000-86382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:86373600-86382000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:86375800-86382000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:86376000-86382000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:86376200-86382400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:86377800-86382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:86378200-86382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:86378600-86382400	Weak transcription	Gastric	stomach
10	chr11:86378800-86382000	Weak transcription	Left Ventricle	heart
11	chr11:86379600-86382400	Enhancers	Fetal Heart	heart
12	chr11:86379800-86382200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:86379800-86382400	Weak transcription	Lung	lung
14	chr11:86380000-86382200	Enhancers	Colon Smooth Muscle	Colon
15	chr11:86380200-86381800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:86380200-86382000	Weak transcription	Aorta	Aorta
17	chr11:86380200-86382000	Enhancers	Rectal Smooth Muscle	rectum
18	chr11:86380400-86382400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:86380400-86382400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:86380400-86382400	Enhancers	Brain Substantia Nigra	brain
21	chr11:86380600-86381800	Weak transcription	Brain Anterior Caudate	brain
22	chr11:86380600-86382200	Weak transcription	Psoas Muscle	Psoas
23	chr11:86380600-86382400	Enhancers	Fetal Lung	lung
24	chr11:86380600-86382600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:86380600-86383600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:86380600-86384400	Active TSS	Brain Angular Gyrus	brain
27	chr11:86380800-86382000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:86380800-86382000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:86380800-86382000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:86380800-86382200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:86380800-86384000	Active TSS	Fetal Brain Female	brain
32	chr11:86381000-86381800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:86381000-86382000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:86381000-86382000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr11:86381000-86382000	Enhancers	NH-A	brain
36	chr11:86381000-86382000	Enhancers	Osteobl	bone
37	chr11:86381000-86382200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:86381000-86382200	Enhancers	Fetal Stomach	stomach
39	chr11:86381000-86382200	Enhancers	HMEC	breast
40	chr11:86381000-86382600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:86381000-86383600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr11:86381000-86383800	Active TSS	Right Atrium	heart
43	chr11:86381000-86384400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:86381200-86381800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:86381200-86381800	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:86381200-86382000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:86381200-86382000	Active TSS	Fetal Brain Male	brain
48	chr11:86381200-86382200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr11:86381200-86382200	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:86381200-86382200	Enhancers	Fetal Thymus	thymus

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