Variant report

Variant	rs2977694
Chromosome Location	chr8:4849606-4849607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:4841962..4844749-chr8:4848427..4850275,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10088688	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10101412	0.82[EUR][1000 genomes]
rs11778422	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2924720	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2924721	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2924723	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2924724	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2977732	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2977733	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4272399	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4436145	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4477045	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4495447	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4517142	0.82[EUR][1000 genomes]
rs4517143	0.82[EUR][1000 genomes]
rs4521778	0.81[AMR][1000 genomes]
rs4614018	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4875426	0.82[EUR][1000 genomes]
rs4875427	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[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	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4847200-4851400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:4848400-4850200	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr8:4848600-4851000	Active TSS	Brain Angular Gyrus	brain
4	chr8:4848600-4852600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr8:4848600-4852800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:4848600-4852800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr8:4848800-4849800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:4848800-4849800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:4848800-4849800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:4848800-4850000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:4848800-4850200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
12	chr8:4848800-4850400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr8:4848800-4850400	Bivalent Enhancer	Fetal Heart	heart
14	chr8:4848800-4850600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:4848800-4850600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:4848800-4850600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:4848800-4850600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:4848800-4850600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr8:4848800-4851200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr8:4848800-4852800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr8:4848800-4852800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:4849000-4849800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:4849000-4849800	Enhancers	Liver	Liver
24	chr8:4849000-4850000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:4849000-4850400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:4849000-4850600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:4849000-4850600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr8:4849200-4850400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:4849200-4850400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr8:4849200-4850600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr8:4849400-4850200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:4849400-4850200	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr8:4849400-4850400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr8:4849400-4850600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
35	chr8:4849600-4849800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:4849600-4849800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr8:4849600-4850000	Bivalent/Poised TSS	Esophagus	oesophagus
38	chr8:4849600-4850400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:4849600-4852000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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