Variant report

Variant	rs13075648
Chromosome Location	chr3:145796213-145796214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:145791294..145794023-chr3:145794706..145796698,2	MCF-7	breast:
2	chr3:145795863..145799081-chr3:145877263..145880316,3	MCF-7	breast:
3	chr3:145795852..145797776-chr3:145810151..145811741,2	K562	blood:
4	chr3:145783528..145785150-chr3:145794804..145797191,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152952	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13065572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13066226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13079521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13088659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13095139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16857900	0.97[EUR][1000 genomes]
rs34041519	0.87[AMR][1000 genomes]
rs34092280	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34201307	1.00[AFR][1000 genomes]
rs34248972	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34298175	1.00[AMR][1000 genomes]
rs34392701	1.00[AFR][1000 genomes]
rs34589717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34695557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34901222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35017529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35020806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35080774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35479343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35520151	1.00[AFR][1000 genomes]
rs35687630	1.00[AFR][1000 genomes]
rs35880277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35969739	1.00[AMR][1000 genomes]
rs62272613	1.00[AFR][1000 genomes]
rs71300372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71300373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71300374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71300375	0.81[EUR][1000 genomes]
rs71300377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71300378	1.00[AMR][1000 genomes]
rs71300379	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71300380	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71300381	1.00[AFR][1000 genomes]
rs71300383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71621137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv877584	chr3:144903957-145833232	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv525829	chr3:145614317-145863779	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv4046	chr3:145693249-145880189	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv965397	chr3:145789376-145797057	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145777000-145819400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:145778200-145817200	Weak transcription	Fetal Stomach	stomach
3	chr3:145779600-145820600	Weak transcription	Fetal Kidney	kidney
4	chr3:145780000-145815600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:145780600-145820400	Weak transcription	Placenta	Placenta
6	chr3:145780800-145819800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:145781800-145831800	Weak transcription	Psoas Muscle	Psoas
8	chr3:145782800-145843200	Weak transcription	Pancreas	Pancrea
9	chr3:145784000-145811800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:145784600-145848800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:145785200-145806400	Weak transcription	Colonic Mucosa	Colon
12	chr3:145785200-145819400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:145785400-145796800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:145785600-145798600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:145787000-145807200	Weak transcription	Fetal Lung	lung
16	chr3:145787200-145798400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:145787600-145798200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:145789200-145830800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:145789800-145811000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:145790000-145808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:145790000-145819800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:145790200-145797000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:145790200-145798000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:145790200-145818600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:145790200-145819400	Weak transcription	Left Ventricle	heart
26	chr3:145790400-145843200	Weak transcription	Right Ventricle	heart
27	chr3:145791600-145833800	Weak transcription	NHDF-Ad	bronchial
28	chr3:145792200-145812200	Strong transcription	HSMM	muscle
29	chr3:145792600-145803600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:145793000-145799800	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr3:145793600-145799000	Strong transcription	HepG2	liver
32	chr3:145793800-145796400	Strong transcription	Fetal Intestine Large	intestine
33	chr3:145794000-145799800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:145794200-145797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:145794200-145798400	Weak transcription	Brain Anterior Caudate	brain
36	chr3:145794400-145797600	Weak transcription	HSMMtube	muscle
37	chr3:145794400-145798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:145794400-145803600	Weak transcription	Fetal Heart	heart
39	chr3:145794400-145808000	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:145794400-145810000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:145794400-145811000	Weak transcription	Adipose Nuclei	Adipose
42	chr3:145794400-145815600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:145794400-145818200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:145794400-145818800	Weak transcription	Ovary	ovary
45	chr3:145794400-145827000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:145794400-145828000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:145794600-145796800	Weak transcription	HUVEC	blood vessel
48	chr3:145794600-145819200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:145795600-145806600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:145795800-145798800	Strong transcription	Liver	Liver

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