Variant report

Variant	rs2532848
Chromosome Location	chr3:48606065-48606066
allele	G/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	POLR2A	chr3:48605265-48607350	A549	lung:	n/a	n/a
2	POLR2A	chr3:48605270-48607693	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48603540..48606248-chr3:48645461..48648473,3	K562	blood:
2	chr3:48604748..48607009-chr3:48645461..48648457,2	K562	blood:
3	chr3:48598893..48601513-chr3:48603815..48606240,3	MCF-7	breast:
4	chr3:48603206..48606480-chr3:48608320..48612943,6	K562	blood:

Variant related genes	Relation type
UCN2	TF binding region
COL7A1	TF binding region
ENSG00000010256	Chromatin interaction
ENSG00000114268	Chromatin interaction
ENSG00000114270	Chromatin interaction
ENSG00000145040	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2109181	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
3	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv3811	chr3:48599180-48643809	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48596600-48606800	Genic enhancers	A549	lung
2	chr3:48596600-48626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:48597600-48606200	Genic enhancers	HMEC	breast
4	chr3:48598600-48624000	Weak transcription	Aorta	Aorta
5	chr3:48598800-48606400	Weak transcription	Colonic Mucosa	Colon
6	chr3:48598800-48609000	Weak transcription	Esophagus	oesophagus
7	chr3:48598800-48615000	Weak transcription	Pancreas	Pancrea
8	chr3:48598800-48617200	Weak transcription	Brain Germinal Matrix	brain
9	chr3:48599000-48614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:48599000-48623600	Weak transcription	Ovary	ovary
11	chr3:48599000-48632000	Weak transcription	Left Ventricle	heart
12	chr3:48599200-48616800	Weak transcription	Fetal Heart	heart
13	chr3:48599200-48630600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:48599400-48606600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:48600600-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:48601000-48606600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:48601000-48631000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:48601200-48616800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:48601400-48614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:48601600-48609400	Strong transcription	Fetal Intestine Small	intestine
21	chr3:48601600-48631000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:48601800-48608600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:48601800-48613400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:48601800-48613600	Weak transcription	Brain Anterior Caudate	brain
25	chr3:48601800-48614200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:48601800-48614600	Weak transcription	Brain Substantia Nigra	brain
27	chr3:48601800-48614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:48601800-48617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:48601800-48633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:48602000-48614400	Weak transcription	Spleen	Spleen
31	chr3:48602000-48614600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:48602000-48619400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:48602000-48629400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:48602000-48633200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:48602200-48629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:48602400-48621400	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:48603200-48609200	Enhancers	HepG2	liver
38	chr3:48603600-48607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:48603600-48613400	Weak transcription	Brain Angular Gyrus	brain
40	chr3:48603600-48630000	Strong transcription	Fetal Stomach	stomach
41	chr3:48603800-48613400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:48603800-48628800	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr3:48603800-48630600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:48603800-48631800	Weak transcription	Gastric	stomach
45	chr3:48604000-48608600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:48604000-48608800	Weak transcription	Placenta	Placenta
47	chr3:48604000-48611200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:48604000-48611800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:48604000-48614000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:48604000-48614600	Weak transcription	Osteobl	bone

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