Variant report

Variant	rs13278088
Chromosome Location	chr8:124822144-124822145
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10087476	0.99[ASN][1000 genomes]
rs10102074	0.87[ASN][1000 genomes]
rs10429369	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10481071	0.99[ASN][1000 genomes]
rs10481072	0.99[ASN][1000 genomes]
rs10481073	0.99[ASN][1000 genomes]
rs10481151	0.98[ASN][1000 genomes]
rs11986791	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12541177	0.89[ASN][1000 genomes]
rs12546891	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549683	0.89[ASN][1000 genomes]
rs12550235	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13253599	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13261392	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13270541	0.91[ASN][1000 genomes]
rs13275308	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13278192	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1367829	0.91[ASN][1000 genomes]
rs16898871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1835691	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1966620	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2060112	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2272683	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385515	0.99[ASN][1000 genomes]
rs2385516	0.97[ASN][1000 genomes]
rs28495871	0.99[ASN][1000 genomes]
rs34253744	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34354351	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34850344	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35420592	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3911939	0.92[ASN][1000 genomes]
rs4870867	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4870869	0.82[ASN][1000 genomes]
rs4871414	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871415	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60068098	0.97[ASN][1000 genomes]
rs6470186	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66474276	0.92[ASN][1000 genomes]
rs66515434	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67139073	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67237665	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67958403	0.92[ASN][1000 genomes]
rs6985019	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986269	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6986384	0.99[ASN][1000 genomes]
rs6988602	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998271	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004482	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004647	0.81[ASN][1000 genomes]
rs7012004	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7014688	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7015861	0.91[ASN][1000 genomes]
rs7017174	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73333742	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73337418	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73337464	0.99[ASN][1000 genomes]
rs73337467	0.99[ASN][1000 genomes]
rs73337469	0.99[ASN][1000 genomes]
rs7815695	0.82[ASN][1000 genomes]
rs7827025	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7827665	0.86[ASN][1000 genomes]
rs7828192	0.86[ASN][1000 genomes]
rs7833650	0.92[ASN][1000 genomes]
rs7846164	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs874205	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs874206	0.99[ASN][1000 genomes]
rs874207	0.99[ASN][1000 genomes]
rs9297674	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9297675	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297676	0.99[ASN][1000 genomes]
rs9918907	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv972254	chr8:124818093-124822653	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
3	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:124790000-124827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:124790200-124828600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:124790800-124825200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:124791000-124828600	Strong transcription	Primary B cells from cord blood	blood
14	chr8:124791000-124828600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:124791200-124828600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:124791200-124828600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:124791200-124829000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:124791200-124829200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:124794200-124825000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr8:124797800-124826000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:124798400-124826400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:124799600-124822600	Weak transcription	Small Intestine	intestine
23	chr8:124800200-124822600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:124806800-124828400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:124808200-124825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:124808400-124831600	Weak transcription	Esophagus	oesophagus
27	chr8:124808600-124822800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:124809800-124833600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:124810200-124829600	Weak transcription	Pancreas	Pancrea
30	chr8:124810600-124831600	Weak transcription	Gastric	stomach
31	chr8:124811600-124830400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:124812800-124829800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:124813000-124830600	Weak transcription	Colonic Mucosa	Colon
34	chr8:124813200-124829000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:124813400-124837600	Weak transcription	Brain Substantia Nigra	brain
36	chr8:124814000-124826800	Weak transcription	Brain Germinal Matrix	brain
37	chr8:124814200-124826600	Weak transcription	Fetal Brain Female	brain
38	chr8:124814800-124837400	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:124815000-124822600	Weak transcription	Brain Angular Gyrus	brain
40	chr8:124815200-124822600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:124815400-124825200	Strong transcription	Placenta	Placenta
42	chr8:124816400-124825400	Strong transcription	HUVEC	blood vessel
43	chr8:124816600-124825200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:124816800-124823200	Weak transcription	Fetal Intestine Small	intestine
45	chr8:124816800-124825200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr8:124816800-124825600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:124816800-124825600	Strong transcription	HSMM	muscle
48	chr8:124816800-124826800	Strong transcription	Dnd41	blood
49	chr8:124816800-124828800	Strong transcription	Adipose Nuclei	Adipose
50	chr8:124817000-124823200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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