Variant report

Variant	rs17369882
Chromosome Location	chr8:125382268-125382269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125371550..125374113-chr8:125379981..125382603,2	MCF-7	breast:
2	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
3	chr8:125366347..125368415-chr8:125380893..125382966,2	MCF-7	breast:
4	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

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	0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17369758	0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28456315	0.81[AFR][1000 genomes]
rs28460280	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28485247	0.93[ASN][1000 genomes]
rs28536158	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28538795	0.85[EUR][1000 genomes]
rs28562339	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28589797	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594441	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28657471	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28827823	0.85[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]
rs66538719	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs6990925	1.00[CEU][hapmap];1.00[CHB][hapmap];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	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73333911	0.85[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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125362800-125382800	Weak transcription	Ovary	ovary
2	chr8:125371400-125382800	Weak transcription	Fetal Intestine Large	intestine
3	chr8:125376800-125382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:125376800-125383400	Weak transcription	Esophagus	oesophagus
5	chr8:125377200-125382400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:125377200-125382400	Weak transcription	Osteobl	bone
7	chr8:125377200-125382800	Weak transcription	Fetal Kidney	kidney
8	chr8:125377400-125382600	Weak transcription	NHLF	lung
9	chr8:125377800-125382400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:125378800-125383400	Weak transcription	Aorta	Aorta
11	chr8:125378800-125383400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:125379200-125383600	Weak transcription	Lung	lung
13	chr8:125379400-125383400	Weak transcription	Small Intestine	intestine
14	chr8:125379600-125383600	Weak transcription	Gastric	stomach
15	chr8:125380000-125382600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:125380200-125382400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:125380200-125382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:125380400-125382400	Enhancers	Primary T cells from cord blood	blood
19	chr8:125380600-125382400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:125380600-125382600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:125380600-125382600	Enhancers	Fetal Brain Male	brain
22	chr8:125380600-125382800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr8:125380600-125383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:125381000-125382600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:125381000-125382800	Weak transcription	Left Ventricle	heart
26	chr8:125381000-125383400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:125381000-125383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:125381000-125383600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:125381000-125383600	Weak transcription	Spleen	Spleen
30	chr8:125381000-125383800	Active TSS	Fetal Heart	heart
31	chr8:125381000-125385800	Active TSS	Right Ventricle	heart
32	chr8:125381200-125382800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:125381200-125383200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr8:125381200-125383400	Weak transcription	Pancreas	Pancrea
35	chr8:125381400-125382600	Enhancers	Brain Hippocampus Middle	brain
36	chr8:125381400-125382600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr8:125381400-125382600	Enhancers	Colon Smooth Muscle	Colon
38	chr8:125381400-125382600	Enhancers	Hela-S3	cervix
39	chr8:125381400-125382800	Enhancers	Fetal Intestine Small	intestine
40	chr8:125381600-125382400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:125381600-125382400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:125381600-125382400	Weak transcription	Fetal Stomach	stomach
43	chr8:125381600-125382600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:125381600-125382600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr8:125381600-125382800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:125381600-125382800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:125381600-125382800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:125381600-125382800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:125381600-125382800	Enhancers	Rectal Smooth Muscle	rectum
50	chr8:125381600-125383000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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