Variant report

Variant	rs11709677
Chromosome Location	chr3:119896458-119896459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119896267..119897823-chr3:119902121..119903746,2	MCF-7	breast:
2	chr3:119810057..119817149-chr3:119894256..119903865,22	MCF-7	breast:
3	chr3:119809943..119817218-chr3:119893934..119905581,30	MCF-7	breast:
4	chr3:119887283..119893170-chr3:119894592..119900399,7	MCF-7	breast:
5	chr3:119877444..119878944-chr3:119896183..119899107,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11710115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11721221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11926867	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13087908	0.90[ASN][1000 genomes]
rs1488765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36107695	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765483	0.90[ASN][1000 genomes]
rs6783970	0.86[ASN][1000 genomes]
rs902793	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv3967	chr3:119857708-119903115	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv1013788	chr3:119866722-119912297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv518052	chr3:119893257-119896657	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119892400-119914200	Weak transcription	Fetal Brain Female	brain
2	chr3:119893600-119897400	Enhancers	Placenta	Placenta
3	chr3:119895200-119897200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:119895400-119897000	Enhancers	Psoas Muscle	Psoas
5	chr3:119895400-119897200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:119895600-119896800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:119895600-119897000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:119895600-119897000	Enhancers	Fetal Muscle Leg	muscle
9	chr3:119895600-119897000	Enhancers	Right Ventricle	heart
10	chr3:119895600-119897000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:119895600-119897000	Flanking Active TSS	A549	lung
12	chr3:119895600-119897000	Flanking Active TSS	Hela-S3	cervix
13	chr3:119895600-119897200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:119895800-119896600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:119895800-119896800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:119895800-119896800	Enhancers	Brain Anterior Caudate	brain
17	chr3:119895800-119896800	Enhancers	Fetal Intestine Large	intestine
18	chr3:119895800-119897000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:119895800-119897000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:119895800-119897000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:119895800-119897000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:119895800-119897000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:119895800-119897000	Enhancers	Colon Smooth Muscle	Colon
24	chr3:119895800-119897000	Enhancers	Fetal Lung	lung
25	chr3:119895800-119897000	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:119895800-119897000	Enhancers	HSMM	muscle
27	chr3:119896000-119896600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:119896000-119896600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:119896000-119896600	Flanking Active TSS	HUVEC	blood vessel
30	chr3:119896000-119896800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:119896000-119897000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:119896000-119897000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:119896000-119897000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr3:119896000-119897000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:119896000-119897000	Enhancers	Fetal Stomach	stomach
36	chr3:119896000-119897000	Enhancers	Right Atrium	heart
37	chr3:119896000-119897000	Flanking Active TSS	Osteobl	bone
38	chr3:119896200-119896600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:119896200-119896600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:119896200-119896600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:119896200-119896600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:119896200-119896600	Active TSS	Stomach Smooth Muscle	stomach
43	chr3:119896200-119896600	Flanking Active TSS	HSMMtube	muscle
44	chr3:119896200-119896800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:119896200-119896800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr3:119896200-119896800	Flanking Active TSS	HMEC	breast
47	chr3:119896200-119896800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr3:119896200-119897000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:119896200-119897000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:119896200-119897000	Enhancers	Aorta	Aorta

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