Variant report

Variant	rs9297807
Chromosome Location	chr8:131418830-131418831
allele	C/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	GATA3	chr8:131418198-131418945	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr8:131418227-131418933	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10086454	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10086773	0.88[ASN][1000 genomes]
rs10090106	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10090231	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10090767	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099549	0.83[ASN][1000 genomes]
rs10099586	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10103132	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10107054	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956520	0.81[ASN][1000 genomes]
rs10956522	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956523	0.90[ASN][1000 genomes]
rs11784638	0.88[ASN][1000 genomes]
rs11992885	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11992932	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11992957	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11993714	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11993741	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11997462	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12678030	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12678062	0.81[EUR][1000 genomes]
rs12680178	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12680697	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681664	0.87[ASN][1000 genomes]
rs13249894	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13255178	0.85[ASN][1000 genomes]
rs13275147	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13276168	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904267	0.88[ASN][1000 genomes]
rs16904268	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17215817	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28559741	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28562521	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28707621	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28716119	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34003529	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34019017	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34188408	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34542318	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34676374	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34737610	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34987314	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35123370	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35229803	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35592532	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4504679	0.87[ASN][1000 genomes]
rs4609234	0.81[ASN][1000 genomes]
rs5027392	0.88[ASN][1000 genomes]
rs56677646	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6470819	0.96[ASN][1000 genomes]
rs6986119	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6986163	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7812299	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7812469	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7822259	0.83[ASN][1000 genomes]
rs7822957	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823146	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7828824	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7838650	0.87[AMR][1000 genomes];0.83[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
3	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:131407400-131419600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:131407800-131419400	Weak transcription	Spleen	Spleen
9	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
12	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:131409400-131421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
17	chr8:131410000-131423200	Weak transcription	Ovary	ovary
18	chr8:131411200-131420400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:131411400-131419400	Weak transcription	Left Ventricle	heart
20	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:131414600-131419400	Weak transcription	Brain Anterior Caudate	brain
22	chr8:131414600-131422000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:131414800-131422000	Weak transcription	Fetal Heart	heart
25	chr8:131415200-131420400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:131416600-131419600	Genic enhancers	HUVEC	blood vessel
27	chr8:131416600-131420600	Enhancers	NHLF	lung
28	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
29	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:131417400-131419400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:131417400-131422800	Weak transcription	NH-A	brain
32	chr8:131417600-131419600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:131417600-131420400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:131417600-131422600	Weak transcription	HSMMtube	muscle
35	chr8:131417800-131420400	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:131418000-131419000	Weak transcription	Osteobl	bone
37	chr8:131418000-131419200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:131418000-131419200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:131418000-131419200	Weak transcription	A549	lung
40	chr8:131418000-131419200	Weak transcription	NHDF-Ad	bronchial
41	chr8:131418000-131419400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:131418000-131419800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:131418000-131419800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:131418000-131420400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:131418000-131420800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:131418000-131421600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:131418000-131422800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:131418000-131422800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:131418000-131422800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:131418000-131423600	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links