Variant report

Variant	rs55993413
Chromosome Location	chr8:68171971-68171972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1138476	0.84[EUR][1000 genomes]
rs11985037	0.84[EUR][1000 genomes]
rs11988175	0.84[EUR][1000 genomes]
rs11989855	0.80[EUR][1000 genomes]
rs11990088	0.84[EUR][1000 genomes]
rs11992626	0.84[EUR][1000 genomes]
rs11995853	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997189	0.84[EUR][1000 genomes]
rs1466283	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933148	0.84[EUR][1000 genomes]
rs16933178	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17335495	1.00[ASN][1000 genomes]
rs55783506	0.80[EUR][1000 genomes]
rs55908039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56070137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56115408	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56902031	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57530222	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57931195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58160220	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307420	0.84[EUR][1000 genomes]
rs59061775	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60167783	0.84[EUR][1000 genomes]
rs61476700	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61552467	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7004549	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7009678	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73691183	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73691187	0.84[EUR][1000 genomes]
rs73691188	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73691189	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73691190	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73691191	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73691194	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73693106	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73693110	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73693114	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73693117	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73693129	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693136	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693148	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693149	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693150	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693151	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816746	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831052	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68104600-68193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:68104800-68182400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:68105000-68184400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:68113000-68172600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:68135200-68184400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:68139000-68178000	Weak transcription	Small Intestine	intestine
8	chr8:68149800-68173000	Weak transcription	Psoas Muscle	Psoas
9	chr8:68153600-68181000	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr8:68154800-68175600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:68155000-68179200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:68155200-68172400	Weak transcription	Stomach Mucosa	stomach
13	chr8:68155200-68173600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:68155600-68173200	Weak transcription	Esophagus	oesophagus
15	chr8:68155600-68175400	Weak transcription	Aorta	Aorta
16	chr8:68155600-68175400	Weak transcription	Hela-S3	cervix
17	chr8:68155600-68193800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:68157600-68181400	Strong transcription	Primary B cells from cord blood	blood
20	chr8:68157800-68181000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:68158000-68181400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr8:68159000-68180600	Strong transcription	Liver	Liver
23	chr8:68159000-68221400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:68159400-68181000	Strong transcription	Primary T cells from cord blood	blood
25	chr8:68159600-68180800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:68159600-68180800	Strong transcription	Dnd41	blood
27	chr8:68159600-68181000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:68159800-68179800	Strong transcription	Adipose Nuclei	Adipose
29	chr8:68159800-68180000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:68160000-68178800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:68160400-68181000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:68160600-68173400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:68160600-68173600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:68160600-68173800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:68160800-68181000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:68161000-68181200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:68161400-68175000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:68161400-68181200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:68161600-68181000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:68162000-68181400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr8:68162400-68192800	Weak transcription	Gastric	stomach
42	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:68162600-68184200	Weak transcription	Spleen	Spleen
44	chr8:68162800-68173400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:68163000-68172600	Weak transcription	Right Ventricle	heart
46	chr8:68163200-68173200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:68163200-68173200	Weak transcription	Pancreas	Pancrea
48	chr8:68163200-68175400	Weak transcription	Lung	lung
49	chr8:68163200-68178000	Weak transcription	A549	lung
50	chr8:68163200-68198400	Weak transcription	HepG2	liver

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