Variant report

Variant	rs11793430
Chromosome Location	chr9:117808120-117808121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1107372	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11794797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12551695	0.80[ASN][1000 genomes]
rs1330365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16932062	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1999223	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2236409	0.88[JPT][hapmap]
rs62578742	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7851618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs944225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117781800-117808600	Weak transcription	Fetal Intestine Small	intestine
2	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
3	chr9:117789000-117808600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:117791600-117833200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:117792800-117815000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:117799200-117819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:117799400-117817000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:117800600-117808600	Weak transcription	Fetal Intestine Large	intestine
9	chr9:117800800-117825000	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:117800800-117825200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:117801000-117812400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:117801000-117819200	Weak transcription	HMEC	breast
13	chr9:117801800-117820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:117802200-117848200	Weak transcription	Spleen	Spleen
15	chr9:117802600-117812400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:117803200-117808600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:117803400-117808400	Weak transcription	NHLF	lung
18	chr9:117803400-117810400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:117803400-117812000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:117803400-117820000	Weak transcription	Aorta	Aorta
21	chr9:117803400-117820600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:117803600-117808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:117803600-117820200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:117803600-117825400	Weak transcription	Fetal Kidney	kidney
25	chr9:117804200-117808200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:117804200-117808400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:117804600-117808200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:117804600-117812800	Weak transcription	NHEK	skin
29	chr9:117805800-117818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:117806400-117808400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr9:117806800-117808400	Weak transcription	Fetal Stomach	stomach
32	chr9:117806800-117810600	Enhancers	Rectal Smooth Muscle	rectum
33	chr9:117806800-117816800	Strong transcription	Osteobl	bone
34	chr9:117807000-117808400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:117807000-117808600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:117807200-117816800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:117807400-117808600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:117807400-117819600	Strong transcription	NHDF-Ad	bronchial
39	chr9:117807400-117819800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:117807600-117808600	Weak transcription	Fetal Lung	lung
41	chr9:117807600-117811400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:117807600-117817400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:117807800-117813800	Strong transcription	NH-A	brain
44	chr9:117808000-117808800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:117808000-117810800	Genic enhancers	Colon Smooth Muscle	Colon

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