Variant report

Variant	rs375745315
Chromosome Location	chr2:113944873-113944874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113875548..113877377-chr2:113943728..113946005,2	MCF-7	breast:
2	chr2:113943577..113946396-chr2:113947110..113948817,2	MCF-7	breast:
3	chr2:113943264..113945628-chr2:113949034..113951386,2	K562	blood:
4	chr2:113944198..113947066-chr2:113955265..113958109,2	MCF-7	breast:
5	chr2:113916801..113918833-chr2:113943214..113944985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136689	Chromatin interaction
ENSG00000125637	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	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv582712	chr2:113932431-113985170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv874898	chr2:113935407-113954247	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv874899	chr2:113935407-113962071	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv961871	chr2:113944654-113945289	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113923000-113956000	Weak transcription	HMEC	breast
3	chr2:113934200-113949000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:113934400-113948600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:113934600-113946400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:113938000-113945000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:113938800-113945800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:113939200-113945600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:113939400-113945200	Strong transcription	Fetal Stomach	stomach
11	chr2:113939400-113945400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:113939400-113946400	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr2:113939400-113946800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:113939400-113948400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:113939400-113949000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:113939400-113956000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:113939400-113956400	Weak transcription	Small Intestine	intestine
18	chr2:113939600-113945600	Strong transcription	K562	blood
19	chr2:113939600-113947800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:113939600-113953800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:113939600-113955400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:113939600-113956200	Weak transcription	Fetal Lung	lung
23	chr2:113939800-113945000	Genic enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:113939800-113945400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:113939800-113946200	Strong transcription	Thymus	Thymus
26	chr2:113940000-113945600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:113940000-113946800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:113940000-113961000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:113940400-113950000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:113940600-113945800	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:113941000-113945200	Genic enhancers	Primary B cells from cord blood	blood
32	chr2:113941000-113950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:113941200-113949800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:113941400-113950000	Weak transcription	Esophagus	oesophagus
35	chr2:113941600-113945800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:113941800-113945200	Weak transcription	HepG2	liver
37	chr2:113941800-113949000	Genic enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:113941800-113950000	Weak transcription	NHEK	skin
39	chr2:113942000-113948800	Genic enhancers	Primary T cells from cord blood	blood
40	chr2:113942000-113950400	Weak transcription	Fetal Intestine Large	intestine
41	chr2:113942400-113950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:113942600-113945400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:113942800-113945000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:113942800-113956600	Strong transcription	Fetal Thymus	thymus
45	chr2:113942800-113961000	Strong transcription	Dnd41	blood
46	chr2:113943000-113945000	Strong transcription	Fetal Intestine Small	intestine
47	chr2:113943000-113946600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:113943000-113956200	Weak transcription	Brain Substantia Nigra	brain
49	chr2:113943600-113950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:113943600-113956200	Weak transcription	Adipose Nuclei	Adipose

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