Variant report

Variant	rs28505748
Chromosome Location	chr9:94801286-94801287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94800752..94804728-chr9:94805070..94807869,3	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10115181	0.95[ASN][1000 genomes]
rs10115565	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10116088	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10117113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10117143	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10117394	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10118614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10118847	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10119603	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10119983	1.00[ASN][1000 genomes]
rs10121430	1.00[ASN][1000 genomes]
rs10121694	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10122415	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10122798	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10123181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10123678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10124473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992194	0.90[ASN][1000 genomes]
rs10992202	0.88[AFR][1000 genomes]
rs10992223	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12336291	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12336497	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12336689	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12338124	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12341602	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12341791	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12343645	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12343647	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12344414	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12345896	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347966	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12348496	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12349327	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12352341	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12353142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12353321	1.00[ASN][1000 genomes]
rs16908106	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908113	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16908131	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28391324	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28429191	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28437390	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28504279	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28513744	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28552704	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28637477	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28735483	1.00[ASN][1000 genomes]
rs28744634	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28759240	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28804693	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28819206	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28825409	0.91[ASN][1000 genomes]
rs28883017	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4302907	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4344138	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4498616	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4560856	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4604504	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56204501	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56208357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56248784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57496363	0.87[AFR][1000 genomes]
rs57862149	0.82[AFR][1000 genomes]
rs58224960	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58679317	0.87[AFR][1000 genomes]
rs59790820	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60230478	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60743157	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61000917	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61456615	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61596207	0.90[ASN][1000 genomes]
rs6479397	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7018595	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7018827	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7021285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021293	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7021408	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7024215	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7025703	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7027257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7028378	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7033888	0.86[AFR][1000 genomes]
rs7034509	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7035964	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7039366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7046206	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7047389	0.95[ASN][1000 genomes]
rs73510406	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73510411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73512337	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73512339	1.00[ASN][1000 genomes]
rs73512378	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73527329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73527330	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73653014	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7848959	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7849664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7851249	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7852989	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7856188	0.83[ASN][1000 genomes]
rs7864340	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7865994	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870339	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7870565	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7871565	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7871997	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7872238	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9696251	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9697261	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv982320	chr9:94799706-94821700	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94791200-94804400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:94791400-94805400	Weak transcription	Psoas Muscle	Psoas
3	chr9:94792200-94804000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr9:94792400-94801800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr9:94792800-94802000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:94792800-94802400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:94792800-94804400	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr9:94793000-94803200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr9:94793200-94804200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:94793400-94801400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:94793600-94802200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:94793600-94804200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:94793600-94805400	Weak transcription	Small Intestine	intestine
14	chr9:94793800-94801400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr9:94794000-94801600	Strong transcription	Primary B cells from cord blood	blood
16	chr9:94794200-94801400	Strong transcription	NHEK	skin
17	chr9:94794200-94801600	Strong transcription	Osteobl	bone
18	chr9:94794200-94804600	Weak transcription	Fetal Heart	heart
19	chr9:94794400-94802200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:94794600-94801400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:94794600-94801400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:94794600-94801600	Strong transcription	Primary T cells from cord blood	blood
23	chr9:94794600-94801600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:94794600-94801600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:94794600-94803800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:94794800-94801400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:94794800-94803200	Weak transcription	Fetal Kidney	kidney
28	chr9:94795200-94804000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr9:94795400-94801400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr9:94795600-94805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:94795800-94801400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:94796200-94801400	Genic enhancers	Fetal Stomach	stomach
33	chr9:94796400-94801400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr9:94796800-94804400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr9:94797000-94805400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:94797200-94804200	Weak transcription	Colonic Mucosa	Colon
37	chr9:94797400-94803200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:94798000-94805600	Weak transcription	Stomach Mucosa	stomach
39	chr9:94798200-94804200	Weak transcription	NH-A	brain
40	chr9:94798400-94804200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:94798800-94801400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:94798800-94803200	Weak transcription	NHDF-Ad	bronchial
43	chr9:94799000-94801400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:94799000-94801400	Enhancers	Colon Smooth Muscle	Colon
45	chr9:94799000-94803800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:94799200-94804200	Weak transcription	Fetal Brain Male	brain
47	chr9:94799400-94801600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:94799400-94803400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:94799600-94801400	Strong transcription	Fetal Muscle Leg	muscle
50	chr9:94799800-94803200	Weak transcription	HSMM	muscle

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