Variant report

Variant	rs10992233
Chromosome Location	chr9:94875980-94875981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:94875954-94876096	MCF10A-Er-Src	breast:	n/a	n/a
2	TAL1	chr9:94875915-94876143	K562	blood:	n/a	chr9:94876006-94876024

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94875730..94878651-chr9:95055011..95057658,2	K562	blood:
2	chr9:94833215..94835590-chr9:94874330..94876455,2	K562	blood:
3	chr9:94875796..94880000-chr9:95086097..95090720,4	MCF-7	breast:
4	chr9:94871412..94875028-chr9:94875797..94879228,6	K562	blood:
5	chr9:94874983..94876627-chr9:94942419..94945391,2	K562	blood:
6	chr9:94731167..94733396-chr9:94875218..94877469,2	K562	blood:
7	chr9:94871544..94874605-chr9:94874619..94877875,5	MCF-7	breast:

No data

Variant related genes	Relation type
SPTLC1	TF binding region
ENSG00000240791	Chromatin interaction
ENSG00000188312	Chromatin interaction
ENSG00000227321	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000238288	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10820926	0.92[EUR][1000 genomes]
rs10820927	0.92[EUR][1000 genomes]
rs10820929	0.92[EUR][1000 genomes]
rs10820935	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10820938	0.86[ASN][1000 genomes]
rs10992173	0.84[EUR][1000 genomes]
rs10992176	0.84[EUR][1000 genomes]
rs10992177	0.84[EUR][1000 genomes]
rs10992178	0.88[EUR][1000 genomes]
rs10992179	0.92[EUR][1000 genomes]
rs10992180	0.92[EUR][1000 genomes]
rs10992183	0.92[EUR][1000 genomes]
rs10992190	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10992212	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992215	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992216	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992220	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992221	0.84[ASN][1000 genomes]
rs10992222	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992230	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992231	0.86[AMR][1000 genomes]
rs10992235	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10992236	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11533009	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12235309	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12235310	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12235495	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12236121	0.92[EUR][1000 genomes]
rs12237221	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12237598	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12238682	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12337180	0.86[ASN][1000 genomes]
rs12343974	0.81[ASN][1000 genomes]
rs12683519	0.81[EUR][1000 genomes]
rs16908003	0.84[EUR][1000 genomes]
rs16908021	0.84[EUR][1000 genomes]
rs16908135	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16908137	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1892267	0.84[EUR][1000 genomes]
rs1892269	0.84[EUR][1000 genomes]
rs2096388	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3858090	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4641129	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5000044	0.80[EUR][1000 genomes]
rs58909848	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59114373	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59183854	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59232045	0.80[EUR][1000 genomes]
rs59856128	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7022553	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7033030	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7847966	0.83[ASN][1000 genomes]
rs7849220	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7852067	0.86[ASN][1000 genomes]
rs7858659	0.83[ASN][1000 genomes]
rs7862826	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7872515	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active 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 miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94817800-94877000	Weak transcription	Fetal Heart	heart
2	chr9:94842800-94876600	Weak transcription	Colonic Mucosa	Colon
3	chr9:94851400-94876600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:94860800-94876000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:94860800-94876000	Weak transcription	Brain Substantia Nigra	brain
6	chr9:94860800-94877000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:94860800-94877200	Weak transcription	Stomach Mucosa	stomach
8	chr9:94861000-94876800	Weak transcription	Fetal Kidney	kidney
9	chr9:94861200-94876000	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:94861600-94877000	Weak transcription	Small Intestine	intestine
11	chr9:94863000-94876800	Weak transcription	HSMMtube	muscle
12	chr9:94863200-94876800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:94864200-94876000	Weak transcription	Hela-S3	cervix
14	chr9:94864600-94876800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:94864800-94876200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:94866200-94876600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr9:94866800-94876000	Weak transcription	A549	lung
18	chr9:94866800-94877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:94868000-94876800	Weak transcription	Pancreas	Pancrea
20	chr9:94868200-94876200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:94868200-94876200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:94868200-94876200	Weak transcription	Right Ventricle	heart
23	chr9:94868200-94876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:94868200-94876800	Weak transcription	Brain Angular Gyrus	brain
25	chr9:94868400-94876200	Weak transcription	Esophagus	oesophagus
26	chr9:94868400-94876400	Weak transcription	Lung	lung
27	chr9:94868400-94877000	Weak transcription	Aorta	Aorta
28	chr9:94868600-94876200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr9:94869000-94876200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:94869200-94876000	Weak transcription	Thymus	Thymus
31	chr9:94869200-94876200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:94869200-94876200	Weak transcription	Gastric	stomach
33	chr9:94869200-94876200	Weak transcription	Spleen	Spleen
34	chr9:94870200-94876000	Weak transcription	Fetal Stomach	stomach
35	chr9:94871000-94876600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:94872000-94876400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:94872400-94876000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr9:94872400-94876400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:94873000-94876000	Weak transcription	Fetal Lung	lung
40	chr9:94874000-94876600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:94874000-94876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr9:94874200-94876400	Weak transcription	Left Ventricle	heart
43	chr9:94874400-94876200	Weak transcription	Psoas Muscle	Psoas
44	chr9:94874400-94876800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:94874600-94876000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:94874600-94876000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr9:94874600-94876000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:94874600-94876000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr9:94874600-94876000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:94874600-94876000	Weak transcription	NHLF	lung

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