Variant report

Variant	rs12548615
Chromosome Location	chr8:95463232-95463233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95461830..95464383-chr8:95467970..95469771,2	K562	blood:
2	chr8:95448569..95451369-chr8:95462393..95465969,3	K562	blood:
3	chr8:95370019..95370526-chr8:95462871..95463837,2	MCF-7	breast:
4	chr8:95457907..95460212-chr8:95461963..95464531,2	K562	blood:

Variant related genes	Relation type
ENSG00000265817	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10504937	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12541117	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541176	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12542622	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542942	1.00[ASN][1000 genomes]
rs16916769	1.00[ASN][1000 genomes]
rs16916798	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2028429	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046663	1.00[ASN][1000 genomes]
rs2381828	1.00[ASN][1000 genomes]
rs28398457	1.00[ASN][1000 genomes]
rs28595703	1.00[ASN][1000 genomes]
rs28703913	1.00[ASN][1000 genomes]
rs2890804	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136403	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136405	1.00[ASN][1000 genomes]
rs3136408	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136409	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34019009	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734277	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4735290	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55989726	1.00[ASN][1000 genomes]
rs56272303	1.00[ASN][1000 genomes]
rs57108375	0.85[ASN][1000 genomes]
rs58866206	1.00[ASN][1000 genomes]
rs59111232	0.84[AFR][1000 genomes]
rs59233901	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59468162	1.00[ASN][1000 genomes]
rs60425434	1.00[ASN][1000 genomes]
rs60523486	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654408	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60894328	1.00[ASN][1000 genomes]
rs61410835	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991270	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991551	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991746	1.00[ASN][1000 genomes]
rs7001164	1.00[ASN][1000 genomes]
rs73270109	1.00[ASN][1000 genomes]
rs73270139	1.00[ASN][1000 genomes]
rs73270196	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271911	1.00[ASN][1000 genomes]
rs73271915	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271953	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271959	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271964	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271995	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695185	1.00[ASN][1000 genomes]
rs7817230	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7824591	1.00[ASN][1000 genomes]
rs7829493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836446	1.00[ASN][1000 genomes]
rs7845278	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:95449800-95476200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:95449800-95479600	Weak transcription	NH-A	brain
7	chr8:95450000-95468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:95450200-95464200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:95450200-95480000	Weak transcription	NHEK	skin
11	chr8:95450400-95479800	Weak transcription	HMEC	breast
12	chr8:95450600-95478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:95451400-95467800	Weak transcription	Small Intestine	intestine
15	chr8:95453000-95476000	Weak transcription	HUVEC	blood vessel
16	chr8:95453000-95476400	Weak transcription	Thymus	Thymus
17	chr8:95454000-95464800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:95454000-95467400	Weak transcription	Primary T cells from cord blood	blood
19	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
21	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:95456000-95471000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:95456000-95476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:95457800-95465800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:95457800-95475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:95458000-95465200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:95458000-95465600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:95458000-95466000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:95458000-95472200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:95458000-95472400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:95459600-95465200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:95459800-95476400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:95460000-95466800	Weak transcription	Dnd41	blood
35	chr8:95460000-95485000	Weak transcription	HepG2	liver
36	chr8:95460600-95467400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:95460600-95471400	Weak transcription	Fetal Stomach	stomach
38	chr8:95460800-95463800	Weak transcription	Fetal Lung	lung
39	chr8:95460800-95467000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:95461200-95466000	Weak transcription	K562	blood
41	chr8:95461200-95467400	Weak transcription	A549	lung
42	chr8:95461200-95469600	Weak transcription	NHLF	lung
43	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
44	chr8:95462800-95464200	Weak transcription	GM12878-XiMat	blood
45	chr8:95462800-95468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:95462800-95468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:95463000-95464200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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