Variant report

Variant	rs12545596
Chromosome Location	chr8:95886053-95886054
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95885201..95886798-chr8:95888381..95890234,2	K562	blood:
2	chr8:95885374..95887574-chr8:95887927..95890028,2	K562	blood:
3	chr8:95883930..95886781-chr8:95890663..95894129,3	K562	blood:
4	chr8:95856055..95857708-chr8:95885549..95887933,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10086284	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10098778	0.85[CHB][hapmap]
rs10104909	0.85[CHB][hapmap]
rs1011795	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1011796	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10956928	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956929	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956930	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10956931	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10956932	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11784717	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs12541035	0.85[ASN][1000 genomes]
rs12548367	0.89[ASN][1000 genomes]
rs12548999	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12549003	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs12550765	0.84[YRI][hapmap]
rs12677346	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12679044	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs1453377	0.85[CHB][hapmap]
rs1453379	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs16893776	0.85[CHB][hapmap]
rs2123647	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2278891	0.84[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes]
rs2924477	0.86[ASN][1000 genomes]
rs2945554	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2945563	0.81[ASN][1000 genomes]
rs2956210	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2956216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3019175	0.94[JPT][hapmap]
rs3019182	0.90[ASN][1000 genomes]
rs34293080	0.85[ASN][1000 genomes]
rs3802193	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4570121	0.87[ASN][1000 genomes]
rs4734291	0.87[JPT][hapmap]
rs4735328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735329	0.86[ASN][1000 genomes]
rs4735330	0.89[ASN][1000 genomes]
rs4735331	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4735332	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4735334	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs4735336	0.85[CHB][hapmap]
rs4735337	0.85[CHB][hapmap]
rs4735339	0.85[CHB][hapmap]
rs477653	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs535322	0.90[ASN][1000 genomes]
rs550418	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs550564	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs551270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61537129	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6471497	0.80[CEU][hapmap]
rs6471499	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs6471500	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471501	0.89[ASN][1000 genomes]
rs683832	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6982393	0.85[CHB][hapmap]
rs6983000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987400	0.89[ASN][1000 genomes]
rs7001535	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7005317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7013163	0.88[ASN][1000 genomes]
rs7015841	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7017487	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7820818	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7827478	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7845219	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs896851	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs896854	0.85[CHB][hapmap]
rs9643350	0.84[ASN][1000 genomes]
rs9643351	0.89[ASN][1000 genomes]
rs9643352	0.89[ASN][1000 genomes]
rs9643353	0.85[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
7	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
10	chr8:95871400-95889600	Weak transcription	NHLF	lung
11	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
12	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
13	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
14	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:95874600-95888000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr8:95874600-95896200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:95874800-95886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:95875400-95887600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:95875600-95893200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:95875600-95894400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:95875600-95904400	Strong transcription	Fetal Thymus	thymus
32	chr8:95875800-95895000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:95876000-95896200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:95876200-95886400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:95876200-95899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:95876200-95906600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:95876600-95886200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:95876800-95899600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:95877000-95894600	Strong transcription	Placenta	Placenta
40	chr8:95877000-95895800	Strong transcription	Adipose Nuclei	Adipose
41	chr8:95877000-95896200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:95877000-95899200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:95877200-95892200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:95877200-95896800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr8:95877400-95886400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:95877400-95891400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:95879000-95898000	Weak transcription	Right Ventricle	heart
48	chr8:95879200-95895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:95879200-95906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:95880200-95894800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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