Variant report

Variant	rs66538719
Chromosome Location	chr8:125383279-125383280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124778955..124781096-chr8:125382427..125384445,2	MCF-7	breast:
2	chr8:125380396..125382052-chr8:125382659..125384185,2	K562	blood:
3	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
4	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:
5	chr8:125283009..125285432-chr8:125382555..125384066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10090489	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093809	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10093812	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10096657	0.85[EUR][1000 genomes]
rs10105192	0.80[EUR][1000 genomes]
rs16899577	0.85[EUR][1000 genomes]
rs17297352	0.83[EUR][1000 genomes]
rs17369737	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17369758	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17369882	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28456315	0.83[AFR][1000 genomes]
rs28460280	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28485247	0.93[ASN][1000 genomes]
rs28536158	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28538795	0.85[EUR][1000 genomes]
rs28562339	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28589797	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594441	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28657471	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28721926	0.81[AFR][1000 genomes]
rs28827823	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4316136	0.98[ASN][1000 genomes]
rs4406374	0.82[EUR][1000 genomes]
rs55931807	0.82[EUR][1000 genomes]
rs56036293	0.80[EUR][1000 genomes]
rs56142132	0.80[EUR][1000 genomes]
rs56166945	0.82[EUR][1000 genomes]
rs56202566	0.82[EUR][1000 genomes]
rs56893629	0.82[EUR][1000 genomes]
rs58908685	0.82[EUR][1000 genomes]
rs66579093	0.88[ASN][1000 genomes]
rs67086747	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990592	0.98[ASN][1000 genomes]
rs6990925	0.98[ASN][1000 genomes]
rs7015493	0.82[EUR][1000 genomes]
rs72711162	0.98[ASN][1000 genomes]
rs72721427	0.96[ASN][1000 genomes]
rs72721429	0.96[ASN][1000 genomes]
rs72721430	0.98[ASN][1000 genomes]
rs72721432	0.98[ASN][1000 genomes]
rs72721435	0.98[ASN][1000 genomes]
rs72721437	0.98[ASN][1000 genomes]
rs72721440	0.95[ASN][1000 genomes]
rs72721441	0.98[ASN][1000 genomes]
rs72721443	0.98[ASN][1000 genomes]
rs73332159	0.85[EUR][1000 genomes]
rs73332190	0.85[EUR][1000 genomes]
rs73332191	0.85[EUR][1000 genomes]
rs73333910	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73333911	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73333937	0.82[EUR][1000 genomes]
rs73333990	0.80[EUR][1000 genomes]
rs73333993	0.80[EUR][1000 genomes]
rs73333994	0.80[EUR][1000 genomes]
rs73336155	0.80[EUR][1000 genomes]
rs73336165	0.80[EUR][1000 genomes]
rs73336173	0.80[EUR][1000 genomes]
rs73336179	0.80[EUR][1000 genomes]
rs73336181	0.80[EUR][1000 genomes]
rs73336185	0.80[EUR][1000 genomes]
rs73336202	0.80[EUR][1000 genomes]
rs73337903	0.80[EUR][1000 genomes]
rs73337904	0.80[EUR][1000 genomes]
rs7819589	0.80[EUR][1000 genomes]
rs7833150	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835963	0.80[EUR][1000 genomes]
rs7836478	0.80[EUR][1000 genomes]
rs9886564	0.85[EUR][1000 genomes];0.98[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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3437541	chr8:125382796-125386144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3398602	chr8:125383071-125386069	Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125376800-125383400	Weak transcription	Esophagus	oesophagus
2	chr8:125378800-125383400	Weak transcription	Aorta	Aorta
3	chr8:125378800-125383400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:125379200-125383600	Weak transcription	Lung	lung
5	chr8:125379400-125383400	Weak transcription	Small Intestine	intestine
6	chr8:125379600-125383600	Weak transcription	Gastric	stomach
7	chr8:125380600-125383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:125381000-125383400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:125381000-125383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:125381000-125383600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:125381000-125383600	Weak transcription	Spleen	Spleen
12	chr8:125381000-125383800	Active TSS	Fetal Heart	heart
13	chr8:125381000-125385800	Active TSS	Right Ventricle	heart
14	chr8:125381200-125383400	Weak transcription	Pancreas	Pancrea
15	chr8:125381600-125383600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr8:125381600-125383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:125381600-125385600	Active TSS	Fetal Brain Female	brain
18	chr8:125381800-125383600	Active TSS	Right Atrium	heart
19	chr8:125381800-125383600	Flanking Active TSS	HUVEC	blood vessel
20	chr8:125382000-125383600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr8:125382000-125383800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:125382000-125383800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr8:125382000-125383800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr8:125382000-125385600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:125382000-125385600	Active TSS	Psoas Muscle	Psoas
26	chr8:125382200-125383600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:125382200-125385200	Active TSS	Primary T cells fromperipheralblood	blood
28	chr8:125382200-125385400	Active TSS	Duodenum Mucosa	Duodenum
29	chr8:125382200-125385400	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr8:125382200-125385400	Active TSS	GM12878-XiMat	blood
31	chr8:125382200-125385600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:125382200-125385600	Active TSS	A549	lung
33	chr8:125382200-125385800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:125382400-125383400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:125382400-125383400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:125382400-125383600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr8:125382400-125383800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr8:125382400-125383800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr8:125382400-125385200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:125382400-125385200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:125382600-125383400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:125382600-125383400	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr8:125382600-125383400	Enhancers	K562	blood
44	chr8:125382600-125383600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:125382600-125383600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr8:125382600-125383600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr8:125382600-125383600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:125382600-125383600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr8:125382600-125383600	Flanking Active TSS	Hela-S3	cervix
50	chr8:125382600-125383800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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