Variant report

Variant	rs298607
Chromosome Location	chr8:130894370-130894371
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10956502	0.85[ASN][1000 genomes]
rs11984804	0.85[ASN][1000 genomes]
rs167238	0.93[CEU][hapmap];0.87[ASN][1000 genomes]
rs167239	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904166	0.85[ASN][1000 genomes]
rs1979477	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2046260	0.96[CEU][hapmap];0.92[ASN][1000 genomes]
rs2054632	0.92[CEU][hapmap];0.95[ASN][1000 genomes]
rs212992	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306528	0.83[ASN][1000 genomes]
rs2449415	1.00[CEU][hapmap]
rs2449417	0.96[CEU][hapmap];0.88[ASN][1000 genomes]
rs2663613	0.96[CEU][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663618	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2663619	0.87[ASN][1000 genomes]
rs298601	0.92[CEU][hapmap]
rs298602	0.93[CEU][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298604	0.93[CEU][hapmap];0.87[ASN][1000 genomes]
rs298605	0.88[ASN][1000 genomes]
rs298606	0.87[ASN][1000 genomes]
rs298609	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298610	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298611	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298612	0.92[CEU][hapmap];0.96[ASN][1000 genomes]
rs298613	0.96[CEU][hapmap];0.95[ASN][1000 genomes]
rs298614	0.95[ASN][1000 genomes]
rs298615	0.96[ASN][1000 genomes]
rs298616	0.92[CEU][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298617	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298618	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298619	0.93[CEU][hapmap];0.88[ASN][1000 genomes]
rs298620	0.87[ASN][1000 genomes]
rs2989885	0.96[CEU][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34983967	0.81[ASN][1000 genomes]
rs367117	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs383209	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs384752	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs385022	0.93[CEU][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389604	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs401526	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs412941	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs423915	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs438877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4395866	0.85[ASN][1000 genomes]
rs476849	0.83[CEU][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59839253	0.86[ASN][1000 genomes]
rs710616	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs710617	0.87[ASN][1000 genomes]
rs837065	0.85[CEU][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs837075	0.89[ASN][1000 genomes]
rs837079	0.86[ASN][1000 genomes]
rs837080	0.93[CEU][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs837081	0.96[CEU][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs857233	0.93[CEU][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:130864800-130898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:130865000-130897400	Weak transcription	Psoas Muscle	Psoas
4	chr8:130865200-130897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:130865400-130899200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:130866000-130894800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:130869800-130895800	Weak transcription	HepG2	liver
9	chr8:130869800-130897600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:130871200-130896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:130873600-130895600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:130874000-130899000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:130874600-130897600	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:130875200-130897400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:130875800-130899400	Weak transcription	Fetal Intestine Large	intestine
16	chr8:130877200-130897400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:130877200-130898800	Weak transcription	Lung	lung
18	chr8:130882800-130896000	Weak transcription	Pancreas	Pancrea
19	chr8:130882800-130897600	Weak transcription	Right Ventricle	heart
20	chr8:130882800-130898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:130883000-130895600	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:130883000-130897400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:130883000-130897400	Weak transcription	Gastric	stomach
24	chr8:130883000-130897400	Weak transcription	Thymus	Thymus
25	chr8:130883000-130897800	Weak transcription	Esophagus	oesophagus
26	chr8:130883000-130897800	Weak transcription	Spleen	Spleen
27	chr8:130883200-130899000	Weak transcription	Placenta	Placenta
28	chr8:130883200-130899200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:130883400-130895800	Weak transcription	Left Ventricle	heart
30	chr8:130883400-130897400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:130883400-130897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:130883400-130897800	Weak transcription	Dnd41	blood
33	chr8:130883400-130899400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:130883400-130900400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:130883600-130897200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:130883800-130898800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:130884000-130894800	Weak transcription	Primary T cells from cord blood	blood
38	chr8:130885200-130897400	Weak transcription	GM12878-XiMat	blood
39	chr8:130885200-130900200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:130885200-130912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:130886600-130896000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:130887400-130896400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:130887400-130897800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:130887600-130895600	Weak transcription	Fetal Heart	heart
45	chr8:130887600-130898400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:130887800-130895000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:130887800-130895800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:130887800-130895800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:130887800-130895800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:130887800-130896000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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