Variant report

Variant	rs73682549
Chromosome Location	chr8:54637093-54637094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54631323..54633867-chr8:54635784..54637550,2	K562	blood:
2	chr8:54632819..54637804-chr8:54638171..54641276,4	MCF-7	breast:
3	chr8:54614266..54615818-chr8:54636955..54638612,2	K562	blood:
4	chr8:54635896..54638290-chr8:54641065..54643578,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1031979	0.93[EUR][1000 genomes]
rs10435587	0.83[EUR][1000 genomes]
rs12056486	0.88[EUR][1000 genomes]
rs12234972	0.86[EUR][1000 genomes]
rs1552148	0.86[EUR][1000 genomes]
rs16919507	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16919508	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919522	1.00[EUR][1000 genomes]
rs16919534	0.98[EUR][1000 genomes]
rs16919537	0.93[EUR][1000 genomes]
rs16919541	0.93[EUR][1000 genomes]
rs16919571	0.88[EUR][1000 genomes]
rs16919573	0.88[EUR][1000 genomes]
rs1905061	0.88[EUR][1000 genomes]
rs2128150	1.00[EUR][1000 genomes]
rs2170444	0.88[EUR][1000 genomes]
rs2376011	0.98[EUR][1000 genomes]
rs3735831	0.86[EUR][1000 genomes]
rs41321146	0.83[EUR][1000 genomes]
rs4737192	0.93[EUR][1000 genomes]
rs4737518	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737554	0.93[EUR][1000 genomes]
rs4737558	0.93[EUR][1000 genomes]
rs4737753	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737761	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737765	0.93[EUR][1000 genomes]
rs4737974	0.83[EUR][1000 genomes]
rs4738027	0.83[EUR][1000 genomes]
rs4738646	0.88[EUR][1000 genomes]
rs4738701	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738884	0.93[EUR][1000 genomes]
rs4738916	1.00[EUR][1000 genomes]
rs55682919	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55876329	0.82[EUR][1000 genomes]
rs56818292	0.95[EUR][1000 genomes]
rs56956173	0.83[EUR][1000 genomes]
rs56973376	1.00[EUR][1000 genomes]
rs57550901	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58558817	0.83[EUR][1000 genomes]
rs58970885	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6473893	0.91[EUR][1000 genomes]
rs6984257	0.83[EUR][1000 genomes]
rs6986372	0.81[EUR][1000 genomes]
rs6987427	1.00[EUR][1000 genomes]
rs6988082	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988812	0.83[EUR][1000 genomes]
rs6994851	0.93[EUR][1000 genomes]
rs6997003	0.83[EUR][1000 genomes]
rs6997127	0.93[EUR][1000 genomes]
rs6999454	1.00[EUR][1000 genomes]
rs7005696	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7006934	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7009705	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018162	0.93[EUR][1000 genomes]
rs73680321	0.83[EUR][1000 genomes]
rs73682551	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73682552	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73682555	1.00[EUR][1000 genomes]
rs73682568	0.95[EUR][1000 genomes]
rs73682570	0.86[EUR][1000 genomes]
rs900163	1.00[EUR][1000 genomes]
rs958268	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643480	0.83[EUR][1000 genomes]
rs9643819	0.83[EUR][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:112 , 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	chr8:54624200-54640600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:54624600-54639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:54625000-54640000	Weak transcription	Fetal Thymus	thymus
6	chr8:54625000-54642000	Weak transcription	Brain Substantia Nigra	brain
7	chr8:54625200-54639800	Weak transcription	Thymus	Thymus
8	chr8:54625200-54641200	Weak transcription	Brain Angular Gyrus	brain
9	chr8:54625200-54649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:54625200-54649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:54625400-54639200	Weak transcription	Brain Anterior Caudate	brain
12	chr8:54625400-54639400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:54625400-54639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:54625400-54639600	Weak transcription	Fetal Lung	lung
15	chr8:54625400-54639800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:54625400-54639800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:54625400-54639800	Weak transcription	HMEC	breast
18	chr8:54625400-54639800	Weak transcription	NH-A	brain
19	chr8:54625400-54640000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:54625400-54640600	Weak transcription	Fetal Brain Female	brain
21	chr8:54625400-54640600	Weak transcription	Psoas Muscle	Psoas
22	chr8:54625400-54640600	Weak transcription	Right Ventricle	heart
23	chr8:54625400-54640600	Weak transcription	NHLF	lung
24	chr8:54625400-54641800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:54625400-54641800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:54625400-54641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:54625400-54642000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:54625400-54642000	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:54625400-54645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:54625400-54645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:54625400-54646800	Weak transcription	Fetal Kidney	kidney
32	chr8:54625400-54649400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:54625600-54639400	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:54625600-54640400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:54625600-54640800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:54625600-54642000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:54625600-54644400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:54625600-54647000	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:54626000-54637800	Weak transcription	HSMMtube	muscle
40	chr8:54626200-54640000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:54626400-54647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:54627200-54639400	Weak transcription	Adipose Nuclei	Adipose
43	chr8:54627200-54642400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:54627200-54644200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:54627200-54645600	Weak transcription	Dnd41	blood
46	chr8:54627400-54663400	Weak transcription	Hela-S3	cervix
47	chr8:54627600-54645800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:54627600-54649000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr8:54627800-54639800	Weak transcription	Osteobl	bone
50	chr8:54628000-54637200	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links