Variant report

Variant	rs11987110
Chromosome Location	chr8:99017609-99017610
allele	G/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	CTBP2	chr8:99017502-99018449	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99015593..99019656-chr8:99049212..99053715,4	MCF-7	breast:

Variant related genes	Relation type
MATN2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11994319	0.89[AMR][1000 genomes]
rs11994595	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11994638	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11996661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16896518	1.00[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs16896531	0.86[YRI][hapmap]
rs7004981	0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7012944	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]

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	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	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
3	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
4	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
5	chr8:99009600-99022600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
7	chr8:99012000-99032000	Weak transcription	Gastric	stomach
8	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:99013800-99018600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:99014000-99022400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:99014200-99025400	Genic enhancers	Fetal Muscle Leg	muscle
12	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:99014400-99018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:99014600-99019600	Weak transcription	Liver	Liver
15	chr8:99014600-99019800	Weak transcription	Fetal Lung	lung
16	chr8:99014600-99020000	Weak transcription	HSMM	muscle
17	chr8:99014600-99021200	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:99014600-99021400	Enhancers	Brain Hippocampus Middle	brain
19	chr8:99014800-99018000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:99014800-99018000	Weak transcription	Adipose Nuclei	Adipose
21	chr8:99014800-99018200	Weak transcription	NH-A	brain
22	chr8:99014800-99022600	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr8:99014800-99023000	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:99015000-99017800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:99015000-99018200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:99015000-99019800	Weak transcription	NHDF-Ad	bronchial
27	chr8:99015000-99020000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:99015200-99022000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:99015200-99023600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:99015400-99018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:99015400-99021200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:99015800-99023800	Weak transcription	Spleen	Spleen
34	chr8:99016400-99017800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:99016400-99021400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:99016400-99021400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:99016600-99018800	Genic enhancers	Fetal Stomach	stomach
38	chr8:99016600-99019800	Enhancers	Brain Substantia Nigra	brain
39	chr8:99016600-99020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:99016600-99021400	Enhancers	Brain Angular Gyrus	brain
41	chr8:99016600-99021400	Enhancers	Brain Anterior Caudate	brain
42	chr8:99016800-99017800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr8:99016800-99017800	Enhancers	Placenta	Placenta
44	chr8:99016800-99018000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:99016800-99018400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:99016800-99018800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:99016800-99023000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:99017000-99017800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:99017000-99018200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:99017000-99018200	Enhancers	Right Atrium	heart

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