Variant report

Variant	rs575583337
Chromosome Location	chr3:48599445-48599446
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48595520-48602478	A549	lung:	n/a	n/a
2	POLR2A	chr3:48598839-48599797	Hela-S3	cervix:	n/a	n/a
3	USF2	chr3:48598968-48600085	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr3:48599340-48599490	HRE	kidney:	n/a	n/a
5	POLR2A	chr3:48599264-48599671	A549	lung:	n/a	n/a
6	POLR2A	chr3:48599262-48599661	A549	lung:	n/a	n/a
7	POLR2A	chr3:48597305-48601913	U87	brain:	n/a	n/a
8	POLR2A	chr3:48599272-48599489	A549	lung:	n/a	n/a
9	POLR2A	chr3:48598540-48600602	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:48599316-48599527	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:48597367-48601913	U87	brain:	n/a	n/a
12	POLR2A	chr3:48588992-48602017	U87	brain:	n/a	n/a
13	POLR2A	chr3:48599246-48599684	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr3:48595475-48603087	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr3:48592306-48602182	U87	brain:	n/a	n/a
16	JUND	chr3:48598917-48599650	A549	lung:	n/a	chr3:48599011-48599018 chr3:48599009-48599020
17	PBX3	chr3:48599209-48599819	A549	lung:	n/a	n/a
18	POLR2A	chr3:48599351-48599730	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:48595568..48597473-chr3:48598401..48600580,2	MCF-7	breast:
2	chr3:48592861..48595715-chr3:48598424..48603731,6	K562	blood:
3	chr3:48592800..48598084-chr3:48598125..48603493,9	MCF-7	breast:
4	chr3:48598407..48599969-chr3:48607969..48610789,2	K562	blood:
5	chr3:48598382..48600078-chr3:48601801..48604759,2	K562	blood:
6	chr3:48598893..48601513-chr3:48603815..48606240,3	MCF-7	breast:

No data

Variant related genes	Relation type
PFKFB4	TF binding region
ENSG00000114268	Chromatin interaction
ENSG00000114270	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48595400-48602000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:48596400-48600000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:48596400-48600200	Enhancers	Spleen	Spleen
4	chr3:48596400-48603200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:48596600-48606800	Genic enhancers	A549	lung
6	chr3:48596600-48626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:48597200-48599800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:48597200-48600200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:48597600-48599800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:48597600-48606200	Genic enhancers	HMEC	breast
11	chr3:48598200-48599800	Weak transcription	Liver	Liver
12	chr3:48598200-48600800	Weak transcription	Hela-S3	cervix
13	chr3:48598600-48599600	Enhancers	K562	blood
14	chr3:48598600-48599600	Enhancers	NHDF-Ad	bronchial
15	chr3:48598600-48600600	Weak transcription	Brain Anterior Caudate	brain
16	chr3:48598600-48601800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:48598600-48603400	Weak transcription	Lung	lung
18	chr3:48598600-48604000	Weak transcription	Fetal Intestine Large	intestine
19	chr3:48598600-48624000	Weak transcription	Aorta	Aorta
20	chr3:48598800-48600800	Weak transcription	Right Atrium	heart
21	chr3:48598800-48601000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:48598800-48604400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:48598800-48604800	Enhancers	Fetal Muscle Trunk	muscle
24	chr3:48598800-48606400	Weak transcription	Colonic Mucosa	Colon
25	chr3:48598800-48609000	Weak transcription	Esophagus	oesophagus
26	chr3:48598800-48615000	Weak transcription	Pancreas	Pancrea
27	chr3:48598800-48617200	Weak transcription	Brain Germinal Matrix	brain
28	chr3:48599000-48599600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:48599000-48599600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:48599000-48599800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:48599000-48600000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:48599000-48600000	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:48599000-48600200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr3:48599000-48600200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:48599000-48600400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:48599000-48600400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:48599000-48600600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:48599000-48600600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:48599000-48600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:48599000-48600600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:48599000-48600600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:48599000-48600600	Weak transcription	Brain Substantia Nigra	brain
43	chr3:48599000-48600800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:48599000-48600800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:48599000-48600800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:48599000-48600800	Weak transcription	HUVEC	blood vessel
47	chr3:48599000-48601000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr3:48599000-48601000	Enhancers	Osteobl	bone
49	chr3:48599000-48601200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:48599000-48601200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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