Variant report

Variant	rs2274751
Chromosome Location	chr9:117800417-117800418
allele	A/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	POLR2A	chr9:117800257-117801130	U87	brain:	n/a	n/a
2	POLR2A	chr9:117800257-117801136	U87	brain:	n/a	n/a

Variant related genes	Relation type
TNC	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10982509	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12338715	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12343737	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12344929	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12348090	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12349585	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13285041	0.81[AFR][1000 genomes]
rs1411453	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1411455	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2274835	0.81[AFR][1000 genomes]
rs2297179	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2297181	0.87[EUR][1000 genomes]
rs28491824	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34865477	0.81[AFR][1000 genomes]
rs3789871	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4394462	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs66539628	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7859478	0.87[AFR][1000 genomes];0.83[EUR][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	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1840787	chr9:117787173-117803882	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv1826575	chr9:117787173-117805719	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv519131	chr9:117796986-117804667	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117773400-117803200	Weak transcription	Esophagus	oesophagus
2	chr9:117781800-117808600	Weak transcription	Fetal Intestine Small	intestine
3	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
4	chr9:117789000-117808600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:117791600-117833200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:117792000-117802600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:117792800-117815000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:117793200-117800600	Weak transcription	Lung	lung
9	chr9:117793600-117802600	Weak transcription	Fetal Kidney	kidney
10	chr9:117795200-117803400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:117796200-117801000	Enhancers	HMEC	breast
12	chr9:117796600-117800600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:117796600-117801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:117797200-117800800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:117797400-117807400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:117797800-117803400	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:117798200-117805000	Weak transcription	HSMM	muscle
18	chr9:117798600-117801400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:117798600-117801800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:117798600-117801800	Weak transcription	Spleen	Spleen
21	chr9:117798600-117802400	Enhancers	Colon Smooth Muscle	Colon
22	chr9:117798600-117804200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:117798800-117803600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:117798800-117804800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:117799200-117801600	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:117799200-117801800	Weak transcription	Right Ventricle	heart
27	chr9:117799200-117805000	Weak transcription	HSMMtube	muscle
28	chr9:117799200-117819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:117799400-117817000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr9:117799800-117804600	Strong transcription	NHEK	skin
31	chr9:117800000-117801200	Enhancers	Stomach Smooth Muscle	stomach
32	chr9:117800000-117806600	Strong transcription	NH-A	brain
33	chr9:117800200-117800600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:117800200-117801800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:117800200-117802000	Enhancers	Aorta	Aorta
36	chr9:117800200-117803400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:117800200-117803400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr9:117800400-117800600	Enhancers	Fetal Muscle Leg	muscle
39	chr9:117800400-117800600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr9:117800400-117800600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr9:117800400-117800600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr9:117800400-117800800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:117800400-117800800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:117800400-117800800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:117800400-117800800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:117800400-117800800	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr9:117800400-117800800	Genic enhancers	Osteobl	bone
48	chr9:117800400-117801000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:117800400-117801000	Strong transcription	Fetal Lung	lung
50	chr9:117800400-117801600	Genic enhancers	Fetal Stomach	stomach

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