Variant report

Variant	rs28594441
Chromosome Location	chr8:125376221-125376222
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	chr8:125375411..125378437-chr8:125382483..125385069,3	K562	blood:

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]
rs10091430	0.97[ASN][1000 genomes]
rs10096657	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	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[ASN][1000 genomes]
rs16899577	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297352	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369737	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369758	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369882	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28456315	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460280	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536158	0.89[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589797	0.93[AFR][1000 genomes];0.85[EUR][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	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28827823	1.00[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	0.97[ASN][1000 genomes]
rs4257989	0.97[ASN][1000 genomes]
rs4355753	0.81[AMR][1000 genomes];0.85[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	0.84[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	0.87[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]
rs7005950	0.97[ASN][1000 genomes]
rs7015493	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333911	1.00[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	0.97[ASN][1000 genomes]
rs7387197	0.82[ASN][1000 genomes]
rs7388185	0.97[ASN][1000 genomes]
rs7462023	0.85[EUR][1000 genomes]
rs7819589	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7835963	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7836478	0.94[EUR][1000 genomes];0.91[ASN][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125362800-125382800	Weak transcription	Ovary	ovary
2	chr8:125364400-125376400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr8:125364400-125378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:125367000-125378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:125367000-125380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:125367200-125382000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:125368400-125376400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:125368600-125376400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:125368600-125376400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:125371200-125376400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:125371200-125376400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:125371400-125376400	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:125371400-125376400	Weak transcription	Small Intestine	intestine
14	chr8:125371400-125380600	Weak transcription	Fetal Brain Female	brain
15	chr8:125371400-125382800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:125371600-125376400	Weak transcription	Adipose Nuclei	Adipose
17	chr8:125371600-125376400	Weak transcription	Fetal Lung	lung
18	chr8:125371600-125377000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:125371800-125376400	Weak transcription	Liver	Liver
20	chr8:125371800-125376400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:125371800-125376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:125371800-125376400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:125371800-125376400	Weak transcription	HepG2	liver
24	chr8:125372000-125376400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:125372000-125378200	Weak transcription	Psoas Muscle	Psoas
26	chr8:125372000-125380600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:125372200-125376400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:125372400-125376400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:125372600-125378200	Weak transcription	Left Ventricle	heart
30	chr8:125372600-125380800	Weak transcription	Right Ventricle	heart
31	chr8:125373200-125376400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:125373200-125381000	Weak transcription	Brain Germinal Matrix	brain
33	chr8:125374800-125377600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:125374800-125380600	Weak transcription	Right Atrium	heart
35	chr8:125375400-125376400	Enhancers	A549	lung
36	chr8:125375600-125380000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:125375800-125376600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:125376200-125376400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:125376200-125376400	Enhancers	GM12878-XiMat	blood
40	chr8:125376200-125376400	Flanking Active TSS	HUVEC	blood vessel
41	chr8:125376200-125376600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr8:125376200-125376800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr8:125376200-125377000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:125376200-125377200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:125376200-125377200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:125376200-125377200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr8:125376200-125377200	Enhancers	Fetal Heart	heart
48	chr8:125376200-125377200	Enhancers	Fetal Kidney	kidney
49	chr8:125376200-125377400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:125376200-125377400	Enhancers	HSMMtube	muscle

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