Variant report

Variant	rs372445625
Chromosome Location	chr2:9994397-9994398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9988819..9991090-chr2:9993199..9995026,2	MCF-7	breast:
2	chr2:9988516..9990339-chr2:9992824..9994417,2	MCF-7	breast:
3	chr2:9985865..9987759-chr2:9990520..9994621,3	MCF-7	breast:
4	chr2:9980973..9983843-chr2:9994187..9996766,3	K562	blood:
5	chr2:9991892..9995036-chr2:10090453..10092770,3	MCF-7	breast:
6	chr2:9993849..9995462-chr2:10090061..10092204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9984600-9995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:9984800-9997600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:9984800-9998400	Weak transcription	Pancreas	Pancrea
4	chr2:9985000-10000800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:9985200-9995600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:9985200-9997200	Weak transcription	Fetal Heart	heart
7	chr2:9985400-9995400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:9985400-9995400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:9985400-9995400	Weak transcription	Small Intestine	intestine
10	chr2:9985600-9995400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:9985600-9997200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:9985800-9997000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:9986200-9997800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:9986600-9996200	Strong transcription	A549	lung
15	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:9987400-9997400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:9987400-10003200	Weak transcription	Stomach Mucosa	stomach
18	chr2:9987600-9997000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:9987600-9998400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:9987800-9995200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:9987800-9996000	Strong transcription	Dnd41	blood
22	chr2:9989000-9995800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:9989000-9997200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:9989000-9997200	Strong transcription	K562	blood
25	chr2:9989000-9997800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:9989000-9997800	Strong transcription	HUVEC	blood vessel
27	chr2:9989000-9997800	Strong transcription	NH-A	brain
28	chr2:9989200-9997000	Strong transcription	HepG2	liver
29	chr2:9989200-9997600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:9989200-9998200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:9989400-9996000	Strong transcription	Fetal Brain Female	brain
32	chr2:9989400-9996200	Strong transcription	GM12878-XiMat	blood
33	chr2:9989400-9997600	Strong transcription	NHDF-Ad	bronchial
34	chr2:9989400-9997800	Strong transcription	Fetal Thymus	thymus
35	chr2:9989400-9998200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:9989400-9998400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:9989400-9999200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:9989400-10000600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr2:9989400-10001000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:9989600-9996400	Strong transcription	NHEK	skin
41	chr2:9989600-9996600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr2:9989600-9996600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:9989600-9997400	Strong transcription	HSMM	muscle
44	chr2:9989600-9997600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:9989600-9997800	Strong transcription	Liver	Liver
46	chr2:9989600-9998400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:9989600-9998400	Strong transcription	Adipose Nuclei	Adipose
48	chr2:9989600-9999200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:9989600-9999400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:9989600-10001200	Strong transcription	Osteobl	bone

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