Variant report

Variant	rs540776084
Chromosome Location	chr8:48297062-48297063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48296378..48299348-chr8:48301045..48303894,3	K562	blood:
2	chr8:48296590..48299380-chr8:48299721..48303188,4	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1018457	chr8:48289643-48321308	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	esv3380588	chr8:48296722-48297120	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
2	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
3	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:48266600-48297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:48278800-48309000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:48279000-48299600	Weak transcription	Spleen	Spleen
7	chr8:48279000-48310200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:48280600-48311200	Weak transcription	Aorta	Aorta
9	chr8:48282200-48301200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:48282200-48311200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:48282200-48312200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:48282400-48300200	Weak transcription	Primary T cells from cord blood	blood
13	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:48282800-48299800	Weak transcription	Dnd41	blood
15	chr8:48283600-48297200	Weak transcription	Right Atrium	heart
16	chr8:48283800-48300200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:48284000-48300400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:48284200-48300200	Weak transcription	Primary B cells from cord blood	blood
19	chr8:48284200-48301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:48289200-48297200	Weak transcription	K562	blood
21	chr8:48290400-48297200	Weak transcription	Left Ventricle	heart
22	chr8:48290400-48299600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:48290400-48311400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:48290800-48322200	Weak transcription	Liver	Liver
25	chr8:48290800-48347400	Weak transcription	HepG2	liver
26	chr8:48291400-48310000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:48291800-48309600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:48292000-48310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:48293000-48299600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:48293000-48312600	Weak transcription	Fetal Thymus	thymus
31	chr8:48293200-48297200	Weak transcription	Psoas Muscle	Psoas
32	chr8:48293200-48315000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:48294000-48297400	Weak transcription	Fetal Kidney	kidney
34	chr8:48294000-48300800	Enhancers	HMEC	breast
35	chr8:48294200-48298400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:48294200-48299200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:48294400-48297200	Weak transcription	Placenta	Placenta
38	chr8:48294400-48299000	Weak transcription	Gastric	stomach
39	chr8:48294400-48299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:48294400-48309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:48294400-48309600	Weak transcription	Fetal Intestine Small	intestine
42	chr8:48294800-48309200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:48295200-48298600	Enhancers	Osteobl	bone
44	chr8:48295400-48297600	Enhancers	Small Intestine	intestine
45	chr8:48295400-48298600	Enhancers	HSMM	muscle
46	chr8:48295600-48298000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr8:48295600-48298200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:48295600-48298200	Enhancers	A549	lung
49	chr8:48295600-48299400	Enhancers	Fetal Lung	lung
50	chr8:48295800-48297200	Weak transcription	Brain Hippocampus Middle	brain

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