Variant report

Variant	rs28721926
Chromosome Location	chr8:125367007-125367008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr8:125363535..125365939-chr8:125365968..125368194,2	K562	blood:
7	chr8:125366683..125371007-chr8:125384186..125388697,5	K562	blood:
8	chr8:125366370..125371248-chr8:125383154..125386121,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10090489	0.88[EUR][1000 genomes]
rs10091430	0.97[ASN][1000 genomes]
rs10093809	0.88[EUR][1000 genomes]
rs10093812	0.88[EUR][1000 genomes]
rs10096657	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105192	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111787	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	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899577	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297352	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369737	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369758	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28456315	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460280	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536158	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28538795	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28562339	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589797	0.83[AFR][1000 genomes]
rs28594441	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28694575	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716042	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28827823	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128778	0.97[ASN][1000 genomes]
rs4128779	0.97[ASN][1000 genomes]
rs4257989	0.97[ASN][1000 genomes]
rs4355753	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364615	0.87[ASN][1000 genomes]
rs4366066	0.97[ASN][1000 genomes]
rs4368958	0.97[ASN][1000 genomes]
rs4376483	0.97[ASN][1000 genomes]
rs4394374	0.91[ASN][1000 genomes]
rs4406374	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4503079	0.97[ASN][1000 genomes]
rs4617135	0.91[ASN][1000 genomes]
rs55679493	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55931807	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56036293	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56142132	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56166945	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56202566	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56225520	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56342262	0.80[ASN][1000 genomes]
rs56893629	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58908685	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66538719	0.81[AFR][1000 genomes]
rs6984676	0.86[ASN][1000 genomes]
rs6984691	0.86[ASN][1000 genomes]
rs7005950	0.97[ASN][1000 genomes]
rs7015493	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73332159	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73332190	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73332191	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333910	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333911	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333937	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333948	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333990	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333993	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333994	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336155	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336165	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336173	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336179	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336181	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336185	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336195	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336202	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73337903	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73337904	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7386980	0.97[ASN][1000 genomes]
rs7387197	0.82[ASN][1000 genomes]
rs7388185	0.97[ASN][1000 genomes]
rs7819589	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833150	0.88[EUR][1000 genomes]
rs7835963	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7836478	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9886564	0.88[EUR][1000 genomes]

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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125346400-125368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125353000-125376200	Weak transcription	HSMM	muscle
3	chr8:125355800-125370400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:125361400-125368000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:125362000-125371000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:125362800-125367600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr8:125362800-125382800	Weak transcription	Ovary	ovary
8	chr8:125363000-125369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:125363400-125368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:125363400-125369400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:125364400-125367400	Weak transcription	A549	lung
12	chr8:125364400-125368000	Weak transcription	NHDF-Ad	bronchial
13	chr8:125364400-125369400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:125364400-125376400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:125364400-125378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:125365000-125368000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:125365000-125368000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:125365000-125370800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:125365200-125370600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:125365200-125370800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:125365200-125376200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:125365400-125367600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:125365600-125370200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:125366200-125368200	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:125366400-125369400	Enhancers	Fetal Heart	heart
26	chr8:125366600-125367200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:125366600-125367200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:125366600-125367200	Enhancers	Stomach Mucosa	stomach
29	chr8:125366600-125367800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:125366600-125368600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:125366600-125368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:125366600-125369200	Enhancers	Psoas Muscle	Psoas
33	chr8:125366800-125367200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:125366800-125367200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:125366800-125367200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:125366800-125367400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr8:125366800-125368400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:125366800-125368400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:125366800-125368600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:125366800-125369200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:125366800-125372800	Weak transcription	Brain Germinal Matrix	brain
42	chr8:125367000-125367200	Enhancers	Primary T cells from cord blood	blood
43	chr8:125367000-125368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:125367000-125368200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:125367000-125368600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:125367000-125370200	Weak transcription	Left Ventricle	heart
47	chr8:125367000-125370200	Weak transcription	Pancreas	Pancrea
48	chr8:125367000-125370600	Weak transcription	Fetal Intestine Small	intestine
49	chr8:125367000-125370600	Weak transcription	Right Atrium	heart
50	chr8:125367000-125370600	Weak transcription	Right Ventricle	heart

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