Variant report

Variant	rs940234
Chromosome Location	chr3:138154114-138154115
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138153677..138156615-chr3:138182530..138184739,2	MCF-7	breast:
2	chr3:138150985..138152959-chr3:138153482..138156074,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1109088	0.97[ASN][1000 genomes]
rs12631438	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12633098	0.93[ASN][1000 genomes]
rs12638938	0.96[ASN][1000 genomes]
rs1546758	0.99[ASN][1000 genomes]
rs1679153	0.93[ASN][1000 genomes]
rs1679170	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1679176	0.87[ASN][1000 genomes]
rs1679177	0.87[ASN][1000 genomes]
rs1679179	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1679181	1.00[ASN][1000 genomes]
rs1720826	0.87[ASN][1000 genomes]
rs1720829	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720830	0.87[ASN][1000 genomes]
rs1720832	0.86[ASN][1000 genomes]
rs34963112	0.86[ASN][1000 genomes]
rs7609893	0.97[ASN][1000 genomes]
rs7611650	0.96[ASN][1000 genomes]
rs774014	0.96[ASN][1000 genomes]
rs812277	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138152200-138155000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr3:138152400-138154800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:138152600-138154600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:138152600-138154800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr3:138152600-138154800	Active TSS	Brain Angular Gyrus	brain
6	chr3:138152800-138154200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr3:138152800-138154400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr3:138152800-138154400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:138152800-138154400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:138152800-138154400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:138152800-138154400	Active TSS	Aorta	Aorta
12	chr3:138152800-138154600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr3:138152800-138154600	Bivalent Enhancer	Fetal Brain Male	brain
14	chr3:138152800-138154600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr3:138152800-138154800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:138153000-138154200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr3:138153000-138154200	Flanking Active TSS	Right Ventricle	heart
18	chr3:138153000-138154200	Bivalent Enhancer	Small Intestine	intestine
19	chr3:138153000-138154200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr3:138153000-138154400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr3:138153000-138154400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:138153000-138154400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
23	chr3:138153000-138154400	Active TSS	Hela-S3	cervix
24	chr3:138153000-138154600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr3:138153000-138154600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr3:138153000-138154600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:138153000-138154600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr3:138153000-138154800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:138153000-138154800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:138153000-138155000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr3:138153000-138155000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr3:138153000-138155200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:138153200-138154200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr3:138153200-138154200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:138153200-138154200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr3:138153200-138154200	Flanking Active TSS	Esophagus	oesophagus
37	chr3:138153200-138154200	Active TSS	HSMMtube	muscle
38	chr3:138153200-138154200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
39	chr3:138153200-138154200	Bivalent/Poised TSS	Osteobl	bone
40	chr3:138153200-138154400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:138153200-138154400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:138153200-138154400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:138153200-138154400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr3:138153200-138154400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr3:138153200-138154400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:138153200-138154400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
47	chr3:138153200-138154400	Flanking Active TSS	Liver	Liver
48	chr3:138153200-138154400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:138153200-138154400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
50	chr3:138153200-138154400	Bivalent/Poised TSS	Stomach Mucosa	stomach

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