Variant report

Variant	rs4150507
Chromosome Location	chr2:128020001-128020002
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128019410..128021681-chr2:128050187..128052921,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163161	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10169028	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10178188	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10195774	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206392	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10211382	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10221754	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10439213	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10439214	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10451530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128974	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1129121	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13385611	0.84[ASN][1000 genomes]
rs13406313	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13421256	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13424947	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429050	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13431911	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1604817	0.82[ASN][1000 genomes]
rs1607437	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271026	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755310	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4150448	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536600	0.82[ASN][1000 genomes]
rs4662714	0.82[ASN][1000 genomes]
rs55826634	0.90[EUR][1000 genomes]
rs56276844	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57011781	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57547812	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57878090	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59283013	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59306090	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6430934	0.82[ASN][1000 genomes]
rs6710541	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6711086	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6727155	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6740067	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6740368	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6743815	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6750648	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72956480	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72956485	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72964322	0.86[AFR][1000 genomes]
rs72964335	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72964338	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72964344	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72964352	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72964361	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7564189	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7584829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586961	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs878461	0.90[EUR][1000 genomes]
rs908787	0.90[EUR][1000 genomes]
rs9808452	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128012400-128028000	Weak transcription	Hela-S3	cervix
2	chr2:128012600-128026200	Weak transcription	Stomach Mucosa	stomach
3	chr2:128012800-128020800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:128013000-128020200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:128013000-128020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:128013000-128020600	Strong transcription	Fetal Brain Female	brain
7	chr2:128013000-128020600	Strong transcription	Dnd41	blood
8	chr2:128013000-128020800	Strong transcription	Fetal Intestine Large	intestine
9	chr2:128013000-128021200	Strong transcription	Primary T cells from cord blood	blood
10	chr2:128013000-128021800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:128013200-128020400	Strong transcription	HepG2	liver
12	chr2:128013200-128020600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:128013200-128020800	Strong transcription	Primary hematopoietic stem cells	blood
14	chr2:128013400-128020200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:128013400-128020200	Strong transcription	Fetal Intestine Small	intestine
16	chr2:128013400-128020200	Strong transcription	Thymus	Thymus
17	chr2:128013400-128020600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:128013400-128020600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:128013400-128020800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:128013400-128020800	Strong transcription	Left Ventricle	heart
21	chr2:128013400-128022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:128013600-128020800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:128013600-128020800	Strong transcription	Liver	Liver
24	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:128013800-128020200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:128014000-128020400	Strong transcription	Brain Germinal Matrix	brain
27	chr2:128014000-128020600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:128014000-128020600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:128014000-128020600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:128014000-128020600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:128014000-128020600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:128014000-128020800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:128014000-128020800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:128014000-128020800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:128014000-128020800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:128014000-128021000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:128014200-128020800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:128014200-128020800	Strong transcription	Primary B cells from cord blood	blood
40	chr2:128014200-128020800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:128014200-128021000	Strong transcription	Fetal Thymus	thymus
42	chr2:128014400-128020200	Strong transcription	Brain Angular Gyrus	brain
43	chr2:128014400-128020600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:128014400-128020600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:128014400-128020800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:128014600-128020200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:128014800-128020600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:128016200-128027800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:128017200-128021400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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