Variant report

Variant	rs6993292
Chromosome Location	chr8:48934404-48934405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48923260..48926236-chr8:48933537..48935762,2	K562	blood:
2	chr8:48933639..48936147-chr8:48936317..48938492,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10091017	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10097783	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10106778	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10481294	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10808897	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10958438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11986191	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12334811	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1551655	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17334535	0.87[EUR][1000 genomes]
rs1894311	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1903082	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28485144	0.86[AMR][1000 genomes]
rs28578331	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28641816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28702696	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28846382	0.87[ASN][1000 genomes]
rs4618724	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4873266	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873737	0.86[AMR][1000 genomes]
rs4873770	0.80[EUR][1000 genomes]
rs4873771	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4873773	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58108179	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6993087	0.89[ASN][1000 genomes]
rs6993483	0.86[AMR][1000 genomes]
rs7014544	0.80[AMR][1000 genomes]
rs72633911	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72647906	0.80[AMR][1000 genomes]
rs72647914	0.80[EUR][1000 genomes]
rs72647916	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72647918	0.83[EUR][1000 genomes]
rs72647922	0.85[EUR][1000 genomes]
rs7824066	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7839407	0.86[AMR][1000 genomes]
rs8178016	0.83[EUR][1000 genomes]
rs8178079	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9657054	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv968508	chr8:48924846-48957474	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48921600-48956000	Weak transcription	Esophagus	oesophagus
2	chr8:48921600-48957400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:48921800-48936200	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:48921800-48943600	Weak transcription	Aorta	Aorta
5	chr8:48921800-48957400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:48921800-48957400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:48921800-48957400	Weak transcription	Stomach Mucosa	stomach
8	chr8:48921800-48960600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:48921800-48966800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:48922000-48957600	Weak transcription	Colonic Mucosa	Colon
11	chr8:48922200-48934800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:48922200-48945000	Weak transcription	Psoas Muscle	Psoas
13	chr8:48922200-48947400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:48922400-48934800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:48922400-48934800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:48922400-48942200	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:48922400-48955600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:48922400-48957800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:48922400-48958000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:48922400-48975400	Weak transcription	Fetal Brain Male	brain
21	chr8:48922600-48934600	Weak transcription	NHDF-Ad	bronchial
22	chr8:48922600-48934600	Weak transcription	NHEK	skin
23	chr8:48922600-48934800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:48922600-48936200	Weak transcription	HepG2	liver
25	chr8:48922600-48936600	Weak transcription	Brain Substantia Nigra	brain
26	chr8:48922600-48942400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:48922600-48945200	Weak transcription	NH-A	brain
28	chr8:48922600-48955800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:48922600-48956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:48922600-48956200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:48922600-48956600	Weak transcription	Brain Anterior Caudate	brain
32	chr8:48922600-48956800	Weak transcription	NHLF	lung
33	chr8:48922600-48957800	Weak transcription	HUVEC	blood vessel
34	chr8:48923800-48940600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:48924600-48953800	Weak transcription	Pancreas	Pancrea
36	chr8:48925000-48939000	Weak transcription	K562	blood
37	chr8:48925000-48957600	Weak transcription	HSMMtube	muscle
38	chr8:48926800-48938000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:48930200-48940200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:48930400-48935600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:48930400-48940400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:48930800-48935400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:48931000-48940400	Weak transcription	Fetal Heart	heart
44	chr8:48931200-48934600	Strong transcription	Ovary	ovary
45	chr8:48931200-48935600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:48931400-48935000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:48931600-48935000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:48931600-48936400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:48931600-48936600	Strong transcription	Fetal Intestine Small	intestine
50	chr8:48931800-48935400	Strong transcription	H1 Cell Line	embryonic stem cell

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