Variant report

Variant	rs10783003
Chromosome Location	chr1:92195746-92195747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:92194683-92199275	HepG2	liver:	n/a	n/a
2	CTCF	chr1:92195681-92195755	K562	blood:	n/a	n/a
3	RUNX3	chr1:92195303-92195870	GM12878	blood:	n/a	n/a
4	RCOR1	chr1:92195651-92195827	K562	blood:	n/a	n/a
5	EP300	chr1:92195474-92195945	K562	blood:	n/a	n/a
6	RUNX3	chr1:92195431-92195896	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92195746..92200158-chr1:92212228..92214643,4	K562	blood:
2	chr1:92186351..92189237-chr1:92195630..92198229,2	K562	blood:
3	chr1:92194536..92198402-chr1:92243329..92245903,3	K562	blood:
4	chr1:92189258..92193188-chr1:92194522..92196591,3	K562	blood:
5	chr1:92170602..92173339-chr1:92193646..92196655,3	K562	blood:

No data

Variant related genes	Relation type
TGFBR3	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10783002	0.83[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10783004	0.81[ASN][1000 genomes]
rs10874911	0.81[AFR][1000 genomes]
rs11165354	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165372	0.81[ASN][1000 genomes]
rs11578802	0.81[ASN][1000 genomes]
rs12074859	0.81[ASN][1000 genomes]
rs2306887	0.82[CHB][hapmap]
rs4658264	0.99[ASN][1000 genomes]
rs6660484	0.81[GIH][hapmap]
rs7512284	0.81[ASN][1000 genomes]
rs7517044	0.82[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv528991	chr1:92191534-92198162	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:92165800-92196800	Weak transcription	Small Intestine	intestine
3	chr1:92171000-92196800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:92171200-92196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:92172800-92197000	Weak transcription	Colonic Mucosa	Colon
6	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:92173600-92197800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:92185200-92196600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:92185400-92196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:92185400-92196600	Weak transcription	A549	lung
11	chr1:92185600-92196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:92185800-92196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:92185800-92196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:92185800-92196800	Weak transcription	Pancreas	Pancrea
15	chr1:92185800-92197600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:92186000-92196800	Weak transcription	Gastric	stomach
17	chr1:92186400-92196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:92187200-92196400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:92187200-92197000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:92189200-92202200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:92190600-92201400	Genic enhancers	NHDF-Ad	bronchial
22	chr1:92191000-92195800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:92191400-92198400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:92191800-92204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:92192000-92196400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:92192000-92196400	Strong transcription	Placenta	Placenta
27	chr1:92192000-92196800	Weak transcription	Brain Anterior Caudate	brain
28	chr1:92192200-92196400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:92192200-92196600	Weak transcription	Brain Substantia Nigra	brain
30	chr1:92192200-92196800	Weak transcription	Psoas Muscle	Psoas
31	chr1:92192200-92196800	Weak transcription	HUVEC	blood vessel
32	chr1:92192600-92197600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:92192600-92200600	Genic enhancers	Fetal Muscle Leg	muscle
34	chr1:92192800-92196200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:92193000-92196000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:92193000-92196200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:92193000-92196200	Weak transcription	Osteobl	bone
38	chr1:92193000-92202400	Weak transcription	Aorta	Aorta
39	chr1:92193400-92195800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr1:92193600-92195800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:92193600-92200600	Strong transcription	HepG2	liver
42	chr1:92193800-92195800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:92193800-92195800	Strong transcription	Adipose Nuclei	Adipose
44	chr1:92193800-92196000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:92193800-92196200	Strong transcription	NHLF	lung
46	chr1:92194000-92196200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:92194000-92196600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:92194200-92196000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr1:92194200-92196200	Weak transcription	Fetal Heart	heart
50	chr1:92194400-92195800	Strong transcription	Fetal Intestine Large	intestine

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