Variant report

Variant	rs188956812
Chromosome Location	chr4:78738747-78738748
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	chr4:78734703..78743448-chr4:78779372..78785561,20	K562	blood:
2	chr4:78731203..78732890-chr4:78737622..78739382,2	K562	blood:

Variant related genes	Relation type
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv594700	chr4:78738089-78740601	Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78722600-78739000	Weak transcription	Ovary	ovary
2	chr4:78722600-78739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:78732800-78738800	Weak transcription	Lung	lung
4	chr4:78735800-78738800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:78736600-78738800	Enhancers	Primary B cells from cord blood	blood
6	chr4:78736600-78739200	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr4:78736800-78738800	Weak transcription	Brain Germinal Matrix	brain
8	chr4:78737000-78738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:78737000-78738800	Weak transcription	Aorta	Aorta
10	chr4:78737000-78738800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:78737000-78738800	Weak transcription	Esophagus	oesophagus
12	chr4:78737000-78738800	Weak transcription	Fetal Brain Male	brain
13	chr4:78737000-78738800	Weak transcription	Fetal Brain Female	brain
14	chr4:78737000-78738800	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:78737000-78738800	Weak transcription	Small Intestine	intestine
16	chr4:78737000-78738800	Weak transcription	Spleen	Spleen
17	chr4:78737000-78742400	Active TSS	Thymus	Thymus
18	chr4:78737200-78738800	Weak transcription	Fetal Lung	lung
19	chr4:78737200-78738800	Weak transcription	Pancreas	Pancrea
20	chr4:78737800-78738800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr4:78738000-78738800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:78738400-78738800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:78738400-78738800	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:78738400-78738800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr4:78738400-78739200	Active TSS	HepG2	liver
26	chr4:78738400-78739400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr4:78738600-78738800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:78738600-78738800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:78738600-78738800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:78738600-78738800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:78738600-78738800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr4:78738600-78738800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:78738600-78738800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr4:78738600-78738800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:78738600-78738800	Active TSS	Brain Substantia Nigra	brain
36	chr4:78738600-78738800	Active TSS	Colonic Mucosa	Colon
37	chr4:78738600-78738800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:78738600-78738800	Enhancers	Fetal Heart	heart
39	chr4:78738600-78738800	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr4:78738600-78738800	Enhancers	Placenta	Placenta
41	chr4:78738600-78738800	Enhancers	Fetal Stomach	stomach
42	chr4:78738600-78738800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr4:78738600-78738800	Enhancers	Right Ventricle	heart
44	chr4:78738600-78738800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr4:78738600-78738800	Enhancers	Stomach Mucosa	stomach
46	chr4:78738600-78738800	Active TSS	Stomach Smooth Muscle	stomach
47	chr4:78738600-78738800	Enhancers	A549	lung
48	chr4:78738600-78738800	Active TSS	GM12878-XiMat	blood
49	chr4:78738600-78738800	Enhancers	Hela-S3	cervix
50	chr4:78738600-78738800	Enhancers	HSMM	muscle

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