Variant report

Variant	rs28657471
Chromosome Location	chr8:125337646-125337647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125337424..125341244-chr8:125341867..125344494,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10090489	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093809	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10093812	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096657	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10105192	0.82[EUR][1000 genomes]
rs16899562	0.93[AFR][1000 genomes]
rs16899577	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17297352	0.85[EUR][1000 genomes]
rs17369737	0.86[EUR][1000 genomes]
rs17369758	0.86[EUR][1000 genomes]
rs17369882	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28460280	0.86[EUR][1000 genomes]
rs28485247	0.90[ASN][1000 genomes]
rs28536158	0.86[EUR][1000 genomes]
rs28538795	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28562339	0.86[EUR][1000 genomes]
rs28589797	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28594441	0.86[EUR][1000 genomes]
rs28694575	0.93[AFR][1000 genomes]
rs28827823	0.86[EUR][1000 genomes]
rs4316136	1.00[ASN][1000 genomes]
rs4355753	0.93[AFR][1000 genomes]
rs4406374	0.83[EUR][1000 genomes]
rs55931807	0.83[EUR][1000 genomes]
rs56036293	0.82[EUR][1000 genomes]
rs56142132	0.82[EUR][1000 genomes]
rs56166945	0.83[EUR][1000 genomes]
rs56202566	0.83[EUR][1000 genomes]
rs56225520	0.93[AFR][1000 genomes]
rs56893629	0.83[EUR][1000 genomes]
rs58908685	0.83[EUR][1000 genomes]
rs66538719	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66579093	0.90[ASN][1000 genomes]
rs67086747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990592	1.00[ASN][1000 genomes]
rs6990925	1.00[ASN][1000 genomes]
rs7015493	0.83[EUR][1000 genomes]
rs72711162	1.00[ASN][1000 genomes]
rs72721427	0.99[ASN][1000 genomes]
rs72721429	0.99[ASN][1000 genomes]
rs72721430	1.00[ASN][1000 genomes]
rs72721432	1.00[ASN][1000 genomes]
rs72721435	1.00[ASN][1000 genomes]
rs72721437	1.00[ASN][1000 genomes]
rs72721440	0.98[ASN][1000 genomes]
rs72721441	1.00[ASN][1000 genomes]
rs72721443	1.00[ASN][1000 genomes]
rs73332159	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73332190	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73332191	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73333910	0.86[EUR][1000 genomes]
rs73333911	0.86[EUR][1000 genomes]
rs73333937	0.83[EUR][1000 genomes]
rs73333990	0.82[EUR][1000 genomes]
rs73333993	0.82[EUR][1000 genomes]
rs73333994	0.82[EUR][1000 genomes]
rs73336155	0.82[EUR][1000 genomes]
rs73336165	0.82[EUR][1000 genomes]
rs73336173	0.82[EUR][1000 genomes]
rs73336179	0.82[EUR][1000 genomes]
rs73336181	0.82[EUR][1000 genomes]
rs73336185	0.82[EUR][1000 genomes]
rs73336202	0.82[EUR][1000 genomes]
rs73337903	0.82[EUR][1000 genomes]
rs73337904	0.82[EUR][1000 genomes]
rs7819589	0.82[EUR][1000 genomes]
rs7833150	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835963	0.82[EUR][1000 genomes]
rs7836478	0.82[EUR][1000 genomes]
rs9886564	0.87[EUR][1000 genomes];1.00[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	nsv516190	chr8:125323011-125343441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:125312800-125337800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:125314200-125340200	Weak transcription	Placenta	Placenta
4	chr8:125320000-125338200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:125321800-125339000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:125327200-125338400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:125332000-125352800	Weak transcription	Fetal Lung	lung
8	chr8:125332400-125338400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:125332400-125339000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:125332400-125340400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:125332400-125351000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:125332600-125348000	Weak transcription	Primary B cells from cord blood	blood
13	chr8:125332800-125346000	Weak transcription	Hela-S3	cervix
14	chr8:125333200-125340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:125333800-125345800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:125334000-125338800	Weak transcription	Fetal Heart	heart
17	chr8:125334000-125345800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:125334000-125345800	Weak transcription	HMEC	breast
19	chr8:125334200-125340000	Weak transcription	HSMM	muscle
20	chr8:125334200-125340600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr8:125334200-125343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
23	chr8:125334600-125339000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:125334800-125338400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:125336400-125339200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:125336800-125338000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr8:125336800-125347200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:125337000-125338400	Enhancers	A549	lung
29	chr8:125337400-125339200	Enhancers	Primary T cells from cord blood	blood
30	chr8:125337600-125338000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:125337600-125338200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:125337600-125339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:125337600-125339400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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