Variant report

Variant	rs569804512
Chromosome Location	chr8:125673764-125673765
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125671685..125674663-chr8:125683736..125685843,2	MCF-7	breast:
2	chr8:125671210..125673860-chr8:125677995..125679854,2	K562	blood:
3	chr8:125672360..125675088-chr8:125677995..125680421,2	K562	blood:
4	chr8:125673153..125675208-chr8:125677038..125679927,4	MCF-7	breast:
5	chr8:125672966..125675048-chr8:125714283..125716564,2	K562	blood:
6	chr8:125671389..125674362-chr8:125674838..125677120,3	K562	blood:
7	chr8:125663736..125665496-chr8:125671253..125674701,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	esv3383237	chr8:125673702-125674017	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
2	chr8:125666200-125674200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:125667200-125674400	Enhancers	HepG2	liver
4	chr8:125668600-125674800	Weak transcription	Liver	Liver
5	chr8:125670800-125674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:125671600-125673800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:125671800-125673800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:125671800-125674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:125671800-125674000	Enhancers	Psoas Muscle	Psoas
10	chr8:125671800-125674000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr8:125671800-125674200	Enhancers	Fetal Muscle Leg	muscle
12	chr8:125671800-125674200	Enhancers	Left Ventricle	heart
13	chr8:125671800-125674200	Enhancers	Lung	lung
14	chr8:125671800-125674200	Enhancers	Spleen	Spleen
15	chr8:125671800-125674400	Enhancers	Fetal Heart	heart
16	chr8:125671800-125674400	Enhancers	Fetal Thymus	thymus
17	chr8:125671800-125675000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:125671800-125677200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:125672000-125674000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:125672000-125674200	Enhancers	Fetal Brain Male	brain
21	chr8:125672200-125674000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:125672200-125674000	Enhancers	Esophagus	oesophagus
23	chr8:125672200-125674400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:125672400-125674000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:125672400-125674600	Enhancers	Right Ventricle	heart
26	chr8:125672400-125677000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:125672600-125674200	Enhancers	Brain Angular Gyrus	brain
28	chr8:125672600-125679600	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:125672800-125673800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr8:125672800-125674000	Enhancers	Primary T cells from cord blood	blood
31	chr8:125672800-125674000	Enhancers	Right Atrium	heart
32	chr8:125672800-125674200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:125672800-125674200	Enhancers	K562	blood
34	chr8:125672800-125674400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr8:125672800-125674400	Enhancers	Brain Germinal Matrix	brain
36	chr8:125672800-125676200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:125672800-125676800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:125672800-125679600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:125673000-125674000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:125673000-125674000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:125673000-125674200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:125673000-125676800	Enhancers	Primary B cells from cord blood	blood
43	chr8:125673000-125676800	Weak transcription	Osteobl	bone
44	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:125673200-125673800	Enhancers	Fetal Kidney	kidney
46	chr8:125673200-125674000	Enhancers	Brain Anterior Caudate	brain
47	chr8:125673200-125674000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:125673200-125674000	Enhancers	Brain Substantia Nigra	brain
49	chr8:125673200-125674200	Enhancers	Brain Hippocampus Middle	brain
50	chr8:125673200-125675000	Weak transcription	Primary hematopoietic stem cells	blood

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