Variant report

Variant	rs71621137
Chromosome Location	chr3:145821339-145821340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:145820162..145825739-chr3:145873098..145880384,6	MCF-7	breast:
2	chr3:145819556..145824408-chr3:145825849..145828748,4	MCF-7	breast:
3	chr3:145809568..145811317-chr3:145820795..145823225,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152952	Chromatin interaction

Extended variants
information (count: 38 )
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]
rs13075648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145781800-145831800	Weak transcription	Psoas Muscle	Psoas
2	chr3:145782800-145843200	Weak transcription	Pancreas	Pancrea
3	chr3:145784600-145848800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:145789200-145830800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:145790400-145843200	Weak transcription	Right Ventricle	heart
6	chr3:145791600-145833800	Weak transcription	NHDF-Ad	bronchial
7	chr3:145794400-145827000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:145794400-145828000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:145796200-145821400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:145798800-145839200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:145808600-145833000	Weak transcription	Fetal Lung	lung
12	chr3:145809200-145821600	Weak transcription	HMEC	breast
13	chr3:145810200-145823400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:145810400-145829000	Weak transcription	NHLF	lung
15	chr3:145810400-145830800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:145810400-145849800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:145810600-145827200	Weak transcription	Small Intestine	intestine
18	chr3:145810800-145851200	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:145812000-145826000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:145812000-145826800	Weak transcription	Aorta	Aorta
21	chr3:145812200-145839200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:145814200-145841000	Weak transcription	Lung	lung
23	chr3:145814600-145828200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:145815600-145824000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:145815600-145824400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:145815600-145825200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr3:145815600-145825400	Strong transcription	HSMM	muscle
28	chr3:145815800-145830000	Strong transcription	Osteobl	bone
29	chr3:145816000-145836800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:145816400-145842000	Weak transcription	Colonic Mucosa	Colon
31	chr3:145817800-145824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:145818000-145823000	Weak transcription	Right Atrium	heart
33	chr3:145818000-145825600	Weak transcription	Fetal Intestine Small	intestine
34	chr3:145818000-145827400	Strong transcription	Fetal Intestine Large	intestine
35	chr3:145818000-145829800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:145818200-145822600	Strong transcription	Adipose Nuclei	Adipose
37	chr3:145818200-145822800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:145818200-145823200	Strong transcription	A549	lung
39	chr3:145818200-145824800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:145818400-145824600	Strong transcription	HSMMtube	muscle
41	chr3:145818600-145822600	Weak transcription	Brain Angular Gyrus	brain
42	chr3:145818600-145827200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:145818800-145822800	Strong transcription	Ovary	ovary
44	chr3:145818800-145831600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:145819000-145829200	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:145819200-145828400	Strong transcription	NH-A	brain
47	chr3:145819400-145821800	Strong transcription	Left Ventricle	heart
48	chr3:145819400-145822000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr3:145819400-145822600	Genic enhancers	HUVEC	blood vessel
50	chr3:145819600-145821600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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