Variant report

Variant	rs73682555
Chromosome Location	chr8:54641917-54641918
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54640318..54643345-chr8:54643961..54649280,5	MCF-7	breast:
2	chr8:54640506..54642635-chr8:54647079..54648821,2	K562	blood:
3	chr8:54635896..54638290-chr8:54641065..54643578,3	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1031979	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1031980	0.94[ASN][1000 genomes]
rs10435587	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11994467	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11996300	0.89[ASN][1000 genomes]
rs12056486	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12056719	0.97[ASN][1000 genomes]
rs12234972	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13276766	0.88[ASN][1000 genomes]
rs1552148	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919507	1.00[EUR][1000 genomes]
rs16919508	0.83[EUR][1000 genomes]
rs16919522	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16919534	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16919537	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16919541	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16919563	0.93[ASN][1000 genomes]
rs16919571	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919573	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1872063	0.90[ASN][1000 genomes]
rs1905061	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2128150	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2170444	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2376011	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3735831	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3757954	0.93[ASN][1000 genomes]
rs41321146	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236945	0.93[ASN][1000 genomes]
rs4737192	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737518	0.83[EUR][1000 genomes]
rs4737554	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737558	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737753	0.86[EUR][1000 genomes]
rs4737761	0.86[EUR][1000 genomes]
rs4737764	0.93[ASN][1000 genomes]
rs4737765	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737821	0.93[ASN][1000 genomes]
rs4737974	0.83[EUR][1000 genomes]
rs4738027	0.83[EUR][1000 genomes]
rs4738470	0.88[ASN][1000 genomes]
rs4738646	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738701	0.93[EUR][1000 genomes]
rs4738884	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738916	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55682919	0.93[EUR][1000 genomes]
rs55876329	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55964335	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56818292	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56956173	0.83[EUR][1000 genomes]
rs56973376	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57550901	0.93[EUR][1000 genomes]
rs58473841	0.88[ASN][1000 genomes]
rs58558817	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58970885	0.83[EUR][1000 genomes]
rs61070518	0.90[ASN][1000 genomes]
rs6473893	0.91[EUR][1000 genomes]
rs6984257	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986372	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987427	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988009	0.92[ASN][1000 genomes]
rs6988082	0.93[EUR][1000 genomes]
rs6988812	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994851	0.93[EUR][1000 genomes]
rs6997003	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997127	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6999454	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7005696	0.93[EUR][1000 genomes]
rs7006934	0.93[EUR][1000 genomes]
rs7009705	0.83[EUR][1000 genomes]
rs7018162	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73587624	0.87[ASN][1000 genomes]
rs73587627	0.88[ASN][1000 genomes]
rs73680321	0.83[EUR][1000 genomes]
rs73682549	1.00[EUR][1000 genomes]
rs73682551	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682552	0.93[EUR][1000 genomes]
rs73682568	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73682570	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7387704	0.83[ASN][1000 genomes]
rs7843701	0.93[ASN][1000 genomes]
rs900163	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs958268	0.83[EUR][1000 genomes]
rs9643480	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643819	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643820	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54621400-54643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:54625000-54642000	Weak transcription	Brain Substantia Nigra	brain
4	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:54625400-54642000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:54625400-54642000	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:54625400-54645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:54625400-54645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:54625400-54646800	Weak transcription	Fetal Kidney	kidney
11	chr8:54625400-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:54625600-54642000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:54625600-54644400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:54625600-54647000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:54626400-54647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:54627200-54642400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:54627200-54644200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:54627200-54645600	Weak transcription	Dnd41	blood
19	chr8:54627400-54663400	Weak transcription	Hela-S3	cervix
20	chr8:54627600-54645800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:54627600-54649000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:54628000-54645800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:54629400-54645400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:54629400-54647400	Weak transcription	Small Intestine	intestine
25	chr8:54630000-54644200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:54631200-54643600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:54633000-54648200	Weak transcription	Brain Germinal Matrix	brain
28	chr8:54635000-54643600	Weak transcription	HepG2	liver
29	chr8:54635000-54644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:54635000-54648200	Weak transcription	Right Atrium	heart
31	chr8:54635000-54660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:54635800-54650800	Weak transcription	Fetal Brain Male	brain
33	chr8:54636400-54642000	Weak transcription	Esophagus	oesophagus
34	chr8:54636400-54643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:54636400-54644200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:54636400-54644400	Weak transcription	Gastric	stomach
37	chr8:54636400-54645000	Weak transcription	Aorta	Aorta
38	chr8:54636400-54649400	Weak transcription	Ovary	ovary
39	chr8:54637400-54648800	Strong transcription	Primary T cells from cord blood	blood
40	chr8:54638400-54645200	Weak transcription	Fetal Heart	heart
41	chr8:54638600-54648400	Weak transcription	Colonic Mucosa	Colon
42	chr8:54639200-54646800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:54639400-54645200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:54639400-54645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:54639400-54645200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:54639400-54645600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:54639400-54647000	Strong transcription	Primary B cells from cord blood	blood
48	chr8:54639400-54647000	Strong transcription	Adipose Nuclei	Adipose
49	chr8:54639400-54649000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr8:54639600-54642200	Enhancers	HUVEC	blood vessel

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