Variant report

Variant	rs2126714
Chromosome Location	chr3:110799167-110799168
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:110731298..110731983-chr3:110798952..110799673,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1351049	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1382077	0.88[ASN][1000 genomes]
rs1477846	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1477848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1477850	0.88[ASN][1000 genomes]
rs16857689	0.88[ASN][1000 genomes]
rs2399376	0.88[ASN][1000 genomes]
rs57043424	0.92[ASN][1000 genomes]
rs58184851	0.88[ASN][1000 genomes]
rs60585479	0.92[ASN][1000 genomes]
rs66624862	0.87[ASN][1000 genomes]
rs72935952	0.87[ASN][1000 genomes]
rs72935959	0.87[ASN][1000 genomes]
rs72935966	0.87[ASN][1000 genomes]
rs72935968	0.87[ASN][1000 genomes]
rs72935975	0.87[ASN][1000 genomes]
rs72935989	0.98[ASN][1000 genomes]
rs72935999	1.00[ASN][1000 genomes]
rs72937905	1.00[ASN][1000 genomes]
rs72937910	0.88[ASN][1000 genomes]
rs72937915	0.88[ASN][1000 genomes]
rs72937922	0.88[ASN][1000 genomes]
rs72937952	0.92[ASN][1000 genomes]
rs72937960	0.92[ASN][1000 genomes]
rs72937968	0.92[ASN][1000 genomes]
rs72937972	0.92[ASN][1000 genomes]
rs7433877	1.00[ASN][1000 genomes]
rs7648752	1.00[ASN][1000 genomes]
rs873132	0.92[ASN][1000 genomes]
rs873133	0.90[ASN][1000 genomes]
rs9288918	1.00[ASN][1000 genomes]
rs9288919	1.00[ASN][1000 genomes]
rs9853370	0.96[ASN][1000 genomes]
rs9882945	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110792600-110800000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:110792600-110802200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:110792600-110803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:110793000-110799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:110793000-110799200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:110793000-110799400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:110793200-110799400	Weak transcription	Fetal Kidney	kidney
8	chr3:110793200-110799800	Weak transcription	HSMMtube	muscle
9	chr3:110793400-110799800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:110794200-110800800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:110794200-110801600	Weak transcription	Ovary	ovary
12	chr3:110794200-110802200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:110794200-110809200	Weak transcription	Fetal Brain Male	brain
14	chr3:110794400-110799400	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:110794400-110813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:110794800-110804600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:110794800-110805200	Enhancers	Dnd41	blood
18	chr3:110795000-110800200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:110795000-110801200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:110795200-110800200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:110795600-110801200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:110795800-110799600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:110796000-110804600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:110796200-110801200	Enhancers	NHDF-Ad	bronchial
25	chr3:110796200-110806800	Weak transcription	Small Intestine	intestine
26	chr3:110796600-110803600	Weak transcription	HepG2	liver
27	chr3:110796800-110801200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:110797000-110799800	Enhancers	A549	lung
29	chr3:110797000-110801200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:110797200-110801000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:110797400-110801000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:110797800-110799600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:110797800-110799600	Weak transcription	Fetal Intestine Small	intestine
34	chr3:110797800-110799800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:110797800-110800800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:110797800-110801400	Enhancers	Liver	Liver
37	chr3:110798000-110800200	Enhancers	NHLF	lung
38	chr3:110798400-110799600	Enhancers	HUVEC	blood vessel
39	chr3:110798400-110800400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr3:110798400-110800800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:110798400-110801200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:110798400-110801800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:110798600-110799600	Weak transcription	Fetal Lung	lung
44	chr3:110798800-110799200	Weak transcription	Stomach Mucosa	stomach
45	chr3:110798800-110799600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:110798800-110803600	Weak transcription	Fetal Intestine Large	intestine
47	chr3:110799000-110799400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:110799000-110799400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:110799000-110799400	Weak transcription	HSMM	muscle
50	chr3:110799000-110800600	Enhancers	Osteobl	bone

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