Variant report

Variant	rs543218320
Chromosome Location	chr3:51996489-51996490
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	ZNF263	chr3:51996412-51996916	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr3:51996413-51996900	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:51977352..51979030-chr3:51995876..51997693,2	MCF-7	breast:
2	chr3:51976676..51979243-chr3:51995471..51997610,2	K562	blood:
3	chr3:51976078..51979243-chr3:51993727..51997610,4	K562	blood:
4	chr3:51988009..51992311-chr3:51992660..51997455,6	K562	blood:

Variant related genes	Relation type
PCBP4	TF binding region
ENSG00000041880	Chromatin interaction
ENSG00000180929	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv876781	chr3:51985664-52009612	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv876782	chr3:51985664-52022779	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv876783	chr3:51987224-52009612	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv876784	chr3:51987224-52013242	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv876785	chr3:51994881-52022779	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	esv3365586	chr3:51995312-51998710	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51988400-52000600	Weak transcription	Hela-S3	cervix
2	chr3:51989400-51997000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:51990600-52000200	Weak transcription	NHDF-Ad	bronchial
4	chr3:51990600-52000400	Weak transcription	Small Intestine	intestine
5	chr3:51990600-52000400	Weak transcription	HUVEC	blood vessel
6	chr3:51990600-52000800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:51990800-51997200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:51990800-51999600	Weak transcription	NH-A	brain
9	chr3:51990800-52000400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:51991000-51996600	Weak transcription	Fetal Brain Male	brain
11	chr3:51991000-51997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:51991000-51997000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr3:51991000-51997400	Strong transcription	NHLF	lung
14	chr3:51991000-51999600	Weak transcription	Colonic Mucosa	Colon
15	chr3:51991000-51999600	Weak transcription	HMEC	breast
16	chr3:51991000-51999800	Weak transcription	NHEK	skin
17	chr3:51991000-52000200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:51991000-52000400	Weak transcription	Stomach Mucosa	stomach
19	chr3:51991000-52000600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:51991200-51997400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:51991200-51997800	Genic enhancers	Brain Cingulate Gyrus	brain
22	chr3:51991200-52000000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:51991200-52000400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:51991200-52000400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:51991400-51996800	Weak transcription	Fetal Heart	heart
26	chr3:51991400-51997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:51991400-51997600	Genic enhancers	Brain Hippocampus Middle	brain
28	chr3:51991400-52000200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:51991600-51997200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:51991800-51996800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:51991800-51998200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:51992800-52000400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:51993000-51996800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:51993400-52000400	Weak transcription	Osteobl	bone
35	chr3:51994000-52000200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:51994600-51996800	Weak transcription	Brain Anterior Caudate	brain
37	chr3:51994600-51996800	Weak transcription	HSMMtube	muscle
38	chr3:51994600-51998600	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:51994600-51999800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:51994600-52000800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:51994800-51999200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:51994800-51999400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:51995000-51996600	Weak transcription	Fetal Lung	lung
44	chr3:51995000-51997000	Genic enhancers	Spleen	Spleen
45	chr3:51995000-51997200	Enhancers	Fetal Intestine Large	intestine
46	chr3:51995000-51998200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:51995000-51999000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:51995000-51999600	Weak transcription	Adipose Nuclei	Adipose
49	chr3:51995000-52000200	Weak transcription	Esophagus	oesophagus
50	chr3:51995000-52000400	Weak transcription	Duodenum Mucosa	Duodenum

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