Variant report

Variant	rs376452517
Chromosome Location	chr2:46776623-46776624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46774212..46777440-chr2:46842823..46846024,3	K562	blood:
2	chr2:46776310..46779098-chr2:46785814..46787869,2	MCF-7	breast:
3	chr2:46774785..46776728-chr2:46780493..46783223,2	MCF-7	breast:
4	chr2:46769021..46773979-chr2:46774333..46777688,7	MCF-7	breast:
5	chr2:46773973..46776728-chr2:46790942..46793307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119878	Chromatin interaction
ENSG00000151665	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000250565	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv9713	chr2:46775356-46790566	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46771000-46781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:46771200-46778000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:46771200-46780000	Enhancers	Psoas Muscle	Psoas
4	chr2:46771200-46781400	Weak transcription	NHEK	skin
5	chr2:46771200-46781600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:46771200-46781600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:46771200-46812800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:46771400-46777000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:46771400-46778000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:46771400-46780000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr2:46771400-46781600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:46771400-46789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:46771400-46796000	Weak transcription	Fetal Kidney	kidney
14	chr2:46771600-46777000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:46771600-46781600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:46771600-46781600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:46771800-46777000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:46771800-46777000	Enhancers	Brain Angular Gyrus	brain
19	chr2:46771800-46777600	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:46771800-46780000	Enhancers	Right Atrium	heart
21	chr2:46771800-46781400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:46771800-46781400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:46771800-46781600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:46771800-46782000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:46771800-46782400	Weak transcription	HMEC	breast
26	chr2:46771800-46795600	Weak transcription	Fetal Brain Male	brain
27	chr2:46772000-46777200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:46772000-46782600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:46772200-46780200	Genic enhancers	Left Ventricle	heart
30	chr2:46772200-46804000	Weak transcription	NH-A	brain
31	chr2:46772400-46777000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:46772400-46777000	Genic enhancers	NHDF-Ad	bronchial
33	chr2:46772800-46777600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:46773000-46780200	Strong transcription	Osteobl	bone
35	chr2:46773200-46777400	Weak transcription	K562	blood
36	chr2:46773200-46806000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:46773400-46779800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:46773600-46778600	Genic enhancers	Brain Hippocampus Middle	brain
39	chr2:46774000-46777000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:46774000-46777000	Genic enhancers	Aorta	Aorta
41	chr2:46774000-46777000	Enhancers	HSMMtube	muscle
42	chr2:46774000-46777200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:46774000-46778000	Genic enhancers	Fetal Stomach	stomach
44	chr2:46774000-46779800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:46774200-46777000	Genic enhancers	HSMM	muscle
46	chr2:46774200-46777600	Strong transcription	Fetal Intestine Large	intestine
47	chr2:46774400-46777200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:46774400-46778400	Enhancers	Thymus	Thymus
49	chr2:46774400-46782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:46774600-46777000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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