Variant report

Variant	rs17369758
Chromosome Location	chr8:125368302-125368303
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125366347..125368415-chr8:125380893..125382966,2	MCF-7	breast:
2	chr8:125366977..125369819-chr8:125389166..125390857,2	K562	blood:
3	chr8:125366767..125369053-chr8:125379214..125381905,2	K562	blood:
4	chr8:125359878..125362922-chr8:125366804..125368717,4	K562	blood:
5	chr8:125366912..125369659-chr8:125371312..125373156,2	K562	blood:
6	chr8:125366683..125371007-chr8:125384186..125388697,5	K562	blood:
7	chr8:125366370..125371248-chr8:125383154..125386121,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10091430	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10096657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105192	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111787	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10956175	0.91[ASN][1000 genomes]
rs11997689	0.88[ASN][1000 genomes]
rs12680422	0.97[ASN][1000 genomes]
rs12680423	0.97[ASN][1000 genomes]
rs16899562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs16899577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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]
rs17369882	0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28456315	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28538795	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28562339	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589797	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28594441	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657471	0.86[EUR][1000 genomes]
rs28694575	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716042	0.88[ASN][1000 genomes]
rs28721926	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28827823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128778	0.97[ASN][1000 genomes]
rs4128779	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4257989	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4355753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364615	0.87[ASN][1000 genomes]
rs4366066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4368958	0.97[ASN][1000 genomes]
rs4376483	0.97[ASN][1000 genomes]
rs4394374	0.91[ASN][1000 genomes]
rs4406374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4503079	0.97[ASN][1000 genomes]
rs4617135	0.91[ASN][1000 genomes]
rs55679493	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55931807	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56036293	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56142132	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56166945	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56202566	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56225520	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56342262	0.80[ASN][1000 genomes]
rs56893629	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58908685	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66538719	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs67086747	0.86[EUR][1000 genomes]
rs6984676	0.86[ASN][1000 genomes]
rs6984691	0.86[ASN][1000 genomes]
rs6990925	1.00[MEX][hapmap]
rs7005950	0.97[ASN][1000 genomes]
rs7015493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73332159	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73332190	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73332191	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333910	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333911	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333937	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333948	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333990	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333993	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333994	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336155	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336165	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336173	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336179	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336181	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336185	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336195	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336202	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73337903	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73337904	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73337971	0.82[EUR][1000 genomes]
rs7386980	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7387197	0.82[ASN][1000 genomes]
rs7388185	0.97[ASN][1000 genomes]
rs7462023	0.85[EUR][1000 genomes]
rs7819589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7835963	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7836478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9886564	1.00[MEX][hapmap];0.83[TSI][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	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	esv3384288	chr8:125350820-125377284	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125353000-125376200	Weak transcription	HSMM	muscle
2	chr8:125355800-125370400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:125362000-125371000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125362800-125382800	Weak transcription	Ovary	ovary
5	chr8:125363000-125369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:125363400-125369400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:125364400-125369400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:125364400-125376400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:125364400-125378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:125365000-125370800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:125365200-125370600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:125365200-125370800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:125365200-125376200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:125365600-125370200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:125366400-125369400	Enhancers	Fetal Heart	heart
16	chr8:125366600-125368600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:125366600-125368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:125366600-125369200	Enhancers	Psoas Muscle	Psoas
19	chr8:125366800-125368400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:125366800-125368400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:125366800-125368600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:125366800-125369200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:125366800-125372800	Weak transcription	Brain Germinal Matrix	brain
24	chr8:125367000-125368600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:125367000-125370200	Weak transcription	Left Ventricle	heart
26	chr8:125367000-125370200	Weak transcription	Pancreas	Pancrea
27	chr8:125367000-125370600	Weak transcription	Fetal Intestine Small	intestine
28	chr8:125367000-125370600	Weak transcription	Right Atrium	heart
29	chr8:125367000-125370600	Weak transcription	Right Ventricle	heart
30	chr8:125367000-125370600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:125367000-125370800	Weak transcription	Gastric	stomach
32	chr8:125367000-125378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:125367000-125380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:125367200-125368400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:125367200-125371200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:125367200-125376200	Weak transcription	Primary T cells from cord blood	blood
37	chr8:125367200-125382000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:125367400-125370400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:125367400-125370800	Enhancers	A549	lung
40	chr8:125367600-125368400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:125367600-125368600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:125367600-125370600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr8:125367800-125369400	Enhancers	Hela-S3	cervix
44	chr8:125367800-125370800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:125368000-125368400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:125368000-125368600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:125368000-125368800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:125368000-125369000	Enhancers	HMEC	breast
49	chr8:125368000-125369000	Enhancers	NHLF	lung
50	chr8:125368000-125369400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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