Variant report

Variant	rs1495132
Chromosome Location	chr3:23251464-23251465
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23243375..23248925-chr3:23249833..23255104,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182247	Chromatin interaction
ENSG00000233153	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10510537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13077333	0.91[ASN][1000 genomes]
rs13083654	0.95[ASN][1000 genomes]
rs13087234	0.92[ASN][1000 genomes]
rs13089963	0.85[ASN][1000 genomes]
rs13095960	0.82[ASN][1000 genomes]
rs17012823	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17012834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17012852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17012897	0.92[ASN][1000 genomes]
rs17012927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17012943	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17012959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17012969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17012988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17012998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17013023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17013026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17013029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17013035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17013049	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17013104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17013116	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17013125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17013128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17013152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2014132	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34239585	0.95[ASN][1000 genomes]
rs34259979	0.95[ASN][1000 genomes]
rs34646795	0.85[ASN][1000 genomes]
rs35743404	0.95[ASN][1000 genomes]
rs36004369	1.00[ASN][1000 genomes]
rs58844120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59365170	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60709653	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73044305	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73044309	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73044318	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73044329	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73044337	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73044339	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73050236	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73050238	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73050257	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73050270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73050276	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999882	chr3:23121533-23257718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23245600-23253400	Weak transcription	Lung	lung
2	chr3:23245800-23253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:23245800-23262800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:23246000-23253000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:23246000-23260800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:23246200-23252200	Weak transcription	Fetal Stomach	stomach
7	chr3:23246200-23257200	Weak transcription	Ovary	ovary
8	chr3:23246200-23257400	Weak transcription	Left Ventricle	heart
9	chr3:23246200-23258800	Weak transcription	HSMM	muscle
10	chr3:23246200-23259000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:23246200-23259000	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:23246200-23259200	Weak transcription	NH-A	brain
13	chr3:23246200-23260600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:23246200-23264200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:23246400-23253200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:23246400-23259400	Weak transcription	Osteobl	bone
17	chr3:23246400-23261200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:23246400-23273400	Weak transcription	Aorta	Aorta
19	chr3:23246600-23252800	Weak transcription	HUVEC	blood vessel
20	chr3:23246600-23254800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:23246600-23258800	Weak transcription	Fetal Lung	lung
22	chr3:23246600-23259000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:23246600-23259000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:23246600-23259200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:23246600-23259200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:23246600-23260000	Weak transcription	NHEK	skin
27	chr3:23246600-23260800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:23246600-23262400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:23246800-23252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:23246800-23259000	Weak transcription	NHLF	lung
31	chr3:23246800-23259800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:23247400-23258400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:23248200-23258400	Weak transcription	Brain Anterior Caudate	brain
34	chr3:23248200-23259000	Weak transcription	A549	lung
35	chr3:23248200-23260600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:23248800-23257200	Weak transcription	Brain Angular Gyrus	brain
37	chr3:23248800-23257400	Weak transcription	Brain Substantia Nigra	brain
38	chr3:23248800-23265800	Weak transcription	Primary T cells from cord blood	blood
39	chr3:23249000-23273400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:23249200-23257000	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:23249400-23260600	Weak transcription	HSMMtube	muscle
42	chr3:23250000-23251800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:23250200-23255200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:23250400-23254800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:23250400-23256200	Weak transcription	Fetal Thymus	thymus
46	chr3:23250400-23257400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:23250600-23251600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:23250600-23251600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr3:23250600-23252000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
50	chr3:23250800-23252800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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