Variant report

Variant	rs28819206
Chromosome Location	chr9:94822915-94822916
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	chr9:94822277..94824746-chr9:94829983..94832787,2	K562	blood:
2	chr9:94821053..94823320-chr9:94823986..94826593,3	MCF-7	breast:

Extended variants
information (count: 130 )
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];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10116088	0.96[AFR][1000 genomes];1.00[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10117394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10118409	0.82[EUR][1000 genomes]
rs10118614	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10118847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119603	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10119983	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121430	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121694	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121928	0.92[EUR][1000 genomes]
rs10122415	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122798	0.90[AFR][1000 genomes];1.00[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	0.92[EUR][1000 genomes]
rs10992194	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992202	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10992223	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336689	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12338124	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12341602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12341791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343645	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343647	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344414	0.93[AFR][1000 genomes];1.00[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];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12348496	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12349001	0.92[EUR][1000 genomes]
rs12349327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352341	0.96[AFR][1000 genomes];1.00[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	1.00[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];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28391324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28429191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437390	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28477960	0.92[EUR][1000 genomes]
rs28504279	0.90[AFR][1000 genomes];1.00[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];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28552704	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28735483	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28744634	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28759240	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28804693	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28825409	0.86[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498616	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604504	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56204501	0.98[AFR][1000 genomes];0.93[AMR][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	0.92[EUR][1000 genomes]
rs57496363	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57862149	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs58224960	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58679317	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59790820	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60230478	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60743157	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61000917	0.96[AFR][1000 genomes];1.00[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];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61596207	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6479397	0.90[ASN][1000 genomes]
rs7018595	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018827	0.98[AFR][1000 genomes];0.86[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025703	0.96[AFR][1000 genomes];1.00[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];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7034509	1.00[ASN][1000 genomes]
rs7035964	0.98[AFR][1000 genomes];0.86[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	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7046206	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047389	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	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73512378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522907	0.92[EUR][1000 genomes]
rs73522929	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73527329	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73527330	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73653014	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7848959	0.98[AFR][1000 genomes];0.86[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	0.92[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];0.92[EUR][1000 genomes]
rs7870339	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871997	0.98[AFR][1000 genomes];0.86[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9697261	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3324084	chr9:94821393-94830399	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3482528	chr9:94821472-94830365	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv3482529	chr9:94821472-94830365	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94805000-94823200	Strong transcription	Duodenum Mucosa	Duodenum
2	chr9:94805600-94823400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:94806000-94823200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr9:94807200-94823000	Strong transcription	Primary B cells from cord blood	blood
5	chr9:94807200-94823200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr9:94807600-94824600	Weak transcription	Fetal Brain Male	brain
7	chr9:94809600-94823600	Weak transcription	Colonic Mucosa	Colon
8	chr9:94810800-94860200	Weak transcription	Right Ventricle	heart
9	chr9:94811800-94828400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:94812200-94832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:94812400-94828400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:94815400-94823000	Strong transcription	Dnd41	blood
13	chr9:94816000-94823400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr9:94817200-94824800	Weak transcription	Brain Substantia Nigra	brain
15	chr9:94817400-94826200	Weak transcription	NHLF	lung
16	chr9:94817600-94823400	Weak transcription	Brain Anterior Caudate	brain
17	chr9:94817600-94827000	Weak transcription	Small Intestine	intestine
18	chr9:94817600-94828000	Weak transcription	Gastric	stomach
19	chr9:94817600-94828000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:94817600-94828200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:94817600-94828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:94817600-94828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:94817800-94823200	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:94817800-94825400	Weak transcription	HUVEC	blood vessel
25	chr9:94817800-94826800	Weak transcription	HSMMtube	muscle
26	chr9:94817800-94827000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:94817800-94877000	Weak transcription	Fetal Heart	heart
28	chr9:94818000-94824600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr9:94818000-94826200	Weak transcription	Hela-S3	cervix
30	chr9:94818200-94823600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr9:94818200-94823600	Weak transcription	Brain Angular Gyrus	brain
32	chr9:94818200-94824800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:94818200-94826200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:94818400-94823200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:94818400-94823800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:94818400-94823800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:94818400-94824400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr9:94818400-94827200	Weak transcription	HSMM	muscle
39	chr9:94818400-94828400	Weak transcription	Esophagus	oesophagus
40	chr9:94818600-94825000	Weak transcription	NHEK	skin
41	chr9:94819200-94823600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr9:94819200-94823600	Weak transcription	NHDF-Ad	bronchial
43	chr9:94819800-94823400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr9:94820000-94823200	Strong transcription	Adipose Nuclei	Adipose
45	chr9:94820400-94823400	Strong transcription	Liver	Liver
46	chr9:94820600-94844400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:94821000-94823000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:94821000-94827200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:94821000-94828200	Weak transcription	Aorta	Aorta
50	chr9:94821200-94823400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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