Variant report

Variant	rs10088117
Chromosome Location	chr8:99024531-99024532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:99024427-99024970	H1-hESC	embryonic stem cell:	n/a	chr8:99024590-99024602 chr8:99024651-99024663
2	CTCF	chr8:99024471-99024891	H1-hESC	embryonic stem cell:	n/a	chr8:99024626-99024639
3	CTCF	chr8:99024500-99024650	GM12871	blood:	n/a	chr8:99024626-99024639
4	MXI1	chr8:99023189-99024958	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99020262..99022328-chr8:99024233..99025913,2	K562	blood:
2	chr8:99024327..99027909-chr8:99029199..99033016,4	MCF-7	breast:
3	chr8:98881503..98883125-chr8:99023785..99026314,2	MCF-7	breast:
4	chr8:98917300..98918803-chr8:99024235..99026797,2	MCF-7	breast:

Variant related genes	Relation type
MATN2	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10096266	1.00[AMR][1000 genomes]
rs10101541	1.00[AMR][1000 genomes]
rs10106409	1.00[AMR][1000 genomes]
rs10108147	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10109972	1.00[AMR][1000 genomes]
rs12334735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13439751	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1378122	0.88[AFR][1000 genomes]
rs2061052	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2255317	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2331692	0.94[YRI][hapmap]
rs2444898	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2513817	0.90[YRI][hapmap]
rs28504529	1.00[AMR][1000 genomes]
rs28638239	0.91[AFR][1000 genomes]
rs28729963	1.00[AMR][1000 genomes]
rs2959642	0.86[AFR][1000 genomes]
rs56060615	1.00[AMR][1000 genomes]
rs59103107	1.00[AMR][1000 genomes]
rs73701228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73701230	1.00[AMR][1000 genomes]
rs748324	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv15294	chr8:99017130-99025235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
3	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
4	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
5	chr8:99012000-99032000	Weak transcription	Gastric	stomach
6	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:99014200-99025400	Genic enhancers	Fetal Muscle Leg	muscle
8	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:99017000-99025400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:99018000-99025000	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:99019400-99025200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:99019800-99025400	Genic enhancers	Fetal Stomach	stomach
15	chr8:99020000-99024600	Enhancers	HSMM	muscle
16	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart
17	chr8:99020800-99025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:99021000-99027200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:99021000-99028600	Weak transcription	Liver	Liver
20	chr8:99021000-99032200	Weak transcription	Brain Substantia Nigra	brain
21	chr8:99021200-99024800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:99021200-99032800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:99021200-99053600	Weak transcription	A549	lung
24	chr8:99021400-99024600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:99021400-99026000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:99021400-99029400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:99021400-99029600	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:99021400-99029800	Weak transcription	Brain Anterior Caudate	brain
29	chr8:99021400-99029800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:99021400-99033400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:99021600-99028800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:99022400-99024600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:99022400-99024800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:99022400-99025200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:99022400-99025200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:99022600-99024800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr8:99023000-99024600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:99023000-99026000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:99023000-99026000	Enhancers	NHLF	lung
42	chr8:99023000-99033400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:99023200-99027600	Weak transcription	Ovary	ovary
44	chr8:99023200-99030000	Weak transcription	Fetal Intestine Small	intestine
45	chr8:99023400-99027600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:99023600-99034800	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr8:99023800-99025200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:99023800-99041200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:99024000-99025000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:99024000-99025000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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