Variant report

Variant	rs10504984
Chromosome Location	chr8:99021469-99021470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99020262..99022328-chr8:99024233..99025913,2	K562	blood:
2	chr8:99014119..99017352-chr8:99021059..99024142,3	MCF-7	breast:
3	chr8:98880171..98881728-chr8:99021126..99023057,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10104918	0.90[AMR][1000 genomes]
rs16896534	0.89[AMR][1000 genomes]
rs16896537	0.89[AMR][1000 genomes]
rs16896541	0.89[AMR][1000 genomes]
rs16896569	0.81[YRI][hapmap];0.81[AMR][1000 genomes]
rs57984035	0.90[AMR][1000 genomes]
rs61185656	0.90[AMR][1000 genomes]
rs6651180	0.89[AMR][1000 genomes]
rs7006753	0.89[AMR][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	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:78 , 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	chr8:99009600-99022600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
6	chr8:99012000-99032000	Weak transcription	Gastric	stomach
7	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:99014000-99022400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:99014200-99025400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
11	chr8:99014800-99022600	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr8:99014800-99023000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:99015200-99022000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:99015200-99023600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:99015800-99023800	Weak transcription	Spleen	Spleen
17	chr8:99016800-99023000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:99017000-99025400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:99017200-99022800	Weak transcription	Right Ventricle	heart
20	chr8:99017400-99023400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr8:99018000-99025000	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr8:99018200-99022600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:99018200-99024000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:99018400-99022400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:99019200-99022600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:99019400-99025200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:99019800-99022000	Enhancers	NHDF-Ad	bronchial
29	chr8:99019800-99025400	Genic enhancers	Fetal Stomach	stomach
30	chr8:99020000-99022200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:99020000-99022400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:99020000-99022400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:99020000-99024600	Enhancers	HSMM	muscle
34	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart
35	chr8:99020200-99021800	Enhancers	NHLF	lung
36	chr8:99020200-99022400	Weak transcription	Placenta	Placenta
37	chr8:99020200-99023200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:99020200-99024000	Enhancers	Osteobl	bone
39	chr8:99020400-99021800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:99020400-99021800	Enhancers	HSMMtube	muscle
41	chr8:99020400-99022400	Weak transcription	Fetal Intestine Small	intestine
42	chr8:99020400-99023400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:99020600-99021600	Weak transcription	Fetal Heart	heart
44	chr8:99020600-99023600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:99020800-99021600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:99020800-99022000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:99020800-99022000	Enhancers	NH-A	brain
48	chr8:99020800-99023200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:99020800-99025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:99021000-99021600	Weak transcription	Ovary	ovary

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