Variant report

Variant	rs72758647
Chromosome Location	chr9:117825604-117825605
allele	A/G
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	chr9:117824904-117826252	U87	brain:	n/a	n/a
2	POLR2A	chr9:117825169-117826252	U87	brain:	n/a	n/a

Variant related genes	Relation type
TNC	TF binding region

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

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

rs_ID	r²[population]
rs11789200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789268	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11791562	0.95[EUR][1000 genomes]
rs11793382	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12686047	1.00[ASN][1000 genomes]
rs17240680	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758648	0.97[EUR][1000 genomes]
rs72758651	0.95[EUR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
2	chr9:117791600-117833200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:117802200-117848200	Weak transcription	Spleen	Spleen
4	chr9:117812800-117825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:117812800-117830600	Weak transcription	Fetal Lung	lung
6	chr9:117815400-117859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:117817800-117850600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:117819200-117827400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:117819400-117825800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:117819800-117848000	Weak transcription	Fetal Intestine Small	intestine
11	chr9:117821400-117840200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:117821800-117825800	Weak transcription	HSMM	muscle
13	chr9:117822000-117826000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:117822400-117854400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:117823000-117826200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:117823200-117825800	Strong transcription	NH-A	brain
17	chr9:117823200-117828000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:117823600-117826000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:117823800-117825800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:117824000-117826000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:117824600-117828000	Strong transcription	Fetal Stomach	stomach
22	chr9:117825000-117826000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:117825000-117826000	Strong transcription	NHLF	lung
24	chr9:117825000-117827400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:117825000-117827400	Strong transcription	Fetal Muscle Leg	muscle
26	chr9:117825000-117827400	Enhancers	Rectal Smooth Muscle	rectum
27	chr9:117825000-117828000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:117825200-117825800	Strong transcription	NHEK	skin
29	chr9:117825200-117826000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr9:117825200-117826800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:117825200-117827000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:117825200-117827200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:117825200-117827200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:117825200-117827200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:117825200-117827400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:117825200-117827400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:117825200-117827400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:117825200-117828000	Genic enhancers	Colon Smooth Muscle	Colon
39	chr9:117825400-117825800	Weak transcription	Aorta	Aorta
40	chr9:117825400-117826000	Strong transcription	Fetal Kidney	kidney
41	chr9:117825400-117826200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:117825400-117826400	Enhancers	Hela-S3	cervix
43	chr9:117825400-117826400	Genic enhancers	HMEC	breast
44	chr9:117825400-117826800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:117825400-117826800	Strong transcription	Fetal Intestine Large	intestine
46	chr9:117825400-117826800	Genic enhancers	Osteobl	bone
47	chr9:117825400-117827000	Genic enhancers	NHDF-Ad	bronchial
48	chr9:117825400-117827200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr9:117825400-117827200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:117825400-117827200	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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