Variant report

Variant	rs28552704
Chromosome Location	chr9:94807751-94807752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94800752..94804728-chr9:94805070..94807869,3	K562	blood:
2	chr9:94805829..94808024-chr9:94825130..94827991,2	K562	blood:
3	chr9:94807642..94810045-chr9:94810085..94812250,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10115181	0.95[ASN][1000 genomes]
rs10115565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10116088	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10117113	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10117143	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10117394	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10118409	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10118614	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10118847	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10119983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121430	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121694	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121928	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10122415	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122798	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10123181	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10123678	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10124473	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10124705	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10992194	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992202	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10992223	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336291	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336497	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336689	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12338124	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12341602	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12341791	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343645	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343647	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344414	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345896	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12347966	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12348496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12349001	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12349327	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352341	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12353142	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12353321	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908106	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16908113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908131	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28391324	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28429191	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437390	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28477960	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28504279	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28505748	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28513744	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637477	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28735483	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28744634	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28759240	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28804693	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28819206	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28825409	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28883017	0.95[ASN][1000 genomes]
rs3858086	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4302907	0.95[ASN][1000 genomes]
rs4344138	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498616	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560856	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604504	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56204501	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56208357	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56248784	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56266486	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57496363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57862149	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58224960	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58679317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59790820	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60230478	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60743157	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61000917	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61246786	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61456615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61596207	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6479397	0.90[ASN][1000 genomes]
rs7018595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021285	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7021293	0.90[ASN][1000 genomes]
rs7021408	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024215	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025703	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027257	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7028378	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7033888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7034509	1.00[ASN][1000 genomes]
rs7035964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7039366	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7045602	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7046206	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047389	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73510406	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73510411	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73512337	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73512339	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73512378	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522907	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73522929	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73527329	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73527330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73653014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7848959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7849664	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7851249	0.90[ASN][1000 genomes]
rs7851412	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7852989	0.95[ASN][1000 genomes]
rs7856188	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7864340	0.95[ASN][1000 genomes]
rs7865994	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7867659	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7870339	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870565	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871565	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7872238	1.00[ASN][1000 genomes]
rs9696251	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9697261	0.89[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94802800-94810000	Strong transcription	Fetal Muscle Trunk	muscle
2	chr9:94803200-94809600	Strong transcription	A549	lung
3	chr9:94803200-94810400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:94803200-94813000	Strong transcription	HSMM	muscle
5	chr9:94803400-94821200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:94804000-94812800	Strong transcription	HUVEC	blood vessel
7	chr9:94804200-94809800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
8	chr9:94804200-94812800	Strong transcription	NH-A	brain
9	chr9:94804200-94813000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:94804200-94813000	Strong transcription	Fetal Thymus	thymus
11	chr9:94804400-94810000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:94804400-94812800	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr9:94804400-94813000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
14	chr9:94804400-94813400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr9:94804600-94807800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr9:94804600-94810800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:94804600-94812800	Strong transcription	Osteobl	bone
18	chr9:94804600-94817600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:94804800-94808800	Strong transcription	NHLF	lung
20	chr9:94804800-94809600	Strong transcription	Rectal Smooth Muscle	rectum
21	chr9:94804800-94810000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:94804800-94810200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:94804800-94810400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:94804800-94814000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:94805000-94809600	Strong transcription	Colon Smooth Muscle	Colon
26	chr9:94805000-94812800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:94805000-94812800	Strong transcription	Fetal Intestine Large	intestine
28	chr9:94805000-94812800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr9:94805000-94823200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr9:94805200-94809400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:94805200-94813000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:94805200-94813400	Strong transcription	Left Ventricle	heart
33	chr9:94805400-94809000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:94805400-94809000	Strong transcription	Hela-S3	cervix
35	chr9:94805400-94809600	Strong transcription	Brain Angular Gyrus	brain
36	chr9:94805400-94809600	Strong transcription	Small Intestine	intestine
37	chr9:94805400-94812000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr9:94805400-94813000	Strong transcription	HSMMtube	muscle
39	chr9:94805400-94821600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:94805600-94807800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr9:94805600-94807800	Strong transcription	Brain Anterior Caudate	brain
42	chr9:94805600-94808000	Strong transcription	Colonic Mucosa	Colon
43	chr9:94805600-94808200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr9:94805600-94809600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr9:94805600-94809600	Strong transcription	HMEC	breast
46	chr9:94805600-94810800	Genic enhancers	K562	blood
47	chr9:94805600-94812200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr9:94805600-94812800	Strong transcription	Adipose Nuclei	Adipose
49	chr9:94805600-94813000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr9:94805600-94813000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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