Variant report

Variant	rs371516926
Chromosome Location	chr1:94373873-94373874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94337226..94339966-chr1:94373816..94376815,2	K562	blood:
2	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:
3	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
4	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
5	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
6	chr1:94344690..94346304-chr1:94373768..94376372,3	MCF-7	breast:
7	chr1:93811453..93814121-chr1:94372637..94375148,3	K562	blood:
8	chr1:94350854..94353775-chr1:94372233..94374131,2	K562	blood:
9	chr1:93811453..93813762-chr1:94372603..94376116,3	K562	blood:
10	chr1:94310017..94313015-chr1:94371318..94373997,3	K562	blood:
11	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260464	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000198691	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000211575	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523355	chr1:94351328-94385591	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3404764	chr1:94372564-94377162	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3426478	chr1:94373589-94376737	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94345000-94374200	Weak transcription	Gastric	stomach
2	chr1:94345000-94374200	Weak transcription	Spleen	Spleen
3	chr1:94345200-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94345200-94374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94345400-94374000	Weak transcription	Right Ventricle	heart
6	chr1:94347400-94374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:94357400-94374000	Weak transcription	Aorta	Aorta
8	chr1:94357600-94374200	Weak transcription	Pancreas	Pancrea
9	chr1:94357800-94374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:94359800-94374000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:94362600-94374200	Weak transcription	Left Ventricle	heart
12	chr1:94362800-94374000	Weak transcription	Ovary	ovary
13	chr1:94366800-94374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:94369600-94375800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:94370200-94374000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:94370200-94374000	Weak transcription	Primary T cells from cord blood	blood
17	chr1:94370200-94374000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:94370800-94374000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:94370800-94374000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:94370800-94375200	Active TSS	HMEC	breast
21	chr1:94371200-94374000	Weak transcription	Small Intestine	intestine
22	chr1:94371200-94375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:94371600-94374000	Weak transcription	Fetal Intestine Small	intestine
24	chr1:94371600-94374400	Flanking Active TSS	Liver	Liver
25	chr1:94372000-94374000	Weak transcription	Fetal Intestine Large	intestine
26	chr1:94372400-94374400	Flanking Active TSS	Dnd41	blood
27	chr1:94372400-94375800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:94372400-94375800	Active TSS	NHLF	lung
29	chr1:94372600-94374000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:94372600-94374000	Enhancers	Colon Smooth Muscle	Colon
31	chr1:94372600-94374000	Flanking Active TSS	Osteobl	bone
32	chr1:94372600-94374400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:94372800-94374000	Flanking Active TSS	NHEK	skin
34	chr1:94372800-94376000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:94373000-94374000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:94373000-94374000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:94373000-94374000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:94373000-94374000	Enhancers	Fetal Heart	heart
39	chr1:94373000-94374200	Flanking Active TSS	Hela-S3	cervix
40	chr1:94373000-94374400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:94373000-94374400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:94373000-94374400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr1:94373200-94374000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:94373200-94374000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr1:94373200-94374000	Enhancers	Brain Substantia Nigra	brain
46	chr1:94373200-94374200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr1:94373200-94374200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr1:94373200-94374200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr1:94373200-94374200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:94373200-94374200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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