Variant report

Variant	rs561613878
Chromosome Location	chr2:85973674-85973675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:85973508-85973778	GM12878	blood:	n/a	chr2:85973672-85973685 chr2:85973639-85973652
2	ELF1	chr2:85973405-85973724	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:85970891..85973881-chr2:85976191..85979014,2	K562	blood:
2	chr2:85964549..85967309-chr2:85973437..85975079,2	K562	blood:
3	chr2:85972115..85974946-chr2:85980100..85981660,2	MCF-7	breast:
4	chr2:85971643..85974209-chr2:85976098..85978084,3	MCF-7	breast:

Variant related genes	Relation type
ATOH8	TF binding region
ENSG00000168874	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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85968000-85974600	Enhancers	Left Ventricle	heart
2	chr2:85968200-85973800	Enhancers	Right Ventricle	heart
3	chr2:85968200-85974200	Enhancers	Right Atrium	heart
4	chr2:85969600-85974200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:85969800-85973800	Enhancers	Brain Angular Gyrus	brain
6	chr2:85969800-85973800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr2:85970400-85974000	Enhancers	Fetal Lung	lung
8	chr2:85970400-85974000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:85971200-85974200	Enhancers	A549	lung
10	chr2:85971600-85975400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:85971600-85977800	Weak transcription	Pancreas	Pancrea
12	chr2:85972200-85976200	Weak transcription	Gastric	stomach
13	chr2:85972400-85975800	Weak transcription	Hela-S3	cervix
14	chr2:85972400-85976200	Weak transcription	Stomach Mucosa	stomach
15	chr2:85972400-85976800	Enhancers	Primary B cells from cord blood	blood
16	chr2:85972400-85978200	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:85972600-85973800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr2:85972600-85973800	Bivalent Enhancer	Fetal Stomach	stomach
19	chr2:85972600-85974000	Enhancers	NHDF-Ad	bronchial
20	chr2:85972800-85973800	Enhancers	Adipose Nuclei	Adipose
21	chr2:85972800-85973800	Enhancers	Colon Smooth Muscle	Colon
22	chr2:85972800-85973800	Enhancers	Ovary	ovary
23	chr2:85972800-85973800	Enhancers	Psoas Muscle	Psoas
24	chr2:85972800-85973800	Weak transcription	GM12878-XiMat	blood
25	chr2:85972800-85974000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:85972800-85974000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:85972800-85974200	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:85972800-85974800	Enhancers	Brain Substantia Nigra	brain
29	chr2:85972800-85975400	Weak transcription	Liver	Liver
30	chr2:85972800-85975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:85972800-85975800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:85972800-85976000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:85972800-85977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:85973000-85973800	Enhancers	Brain Anterior Caudate	brain
35	chr2:85973000-85973800	Enhancers	Brain Hippocampus Middle	brain
36	chr2:85973000-85973800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:85973000-85973800	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:85973000-85973800	Enhancers	HSMM	muscle
39	chr2:85973000-85973800	Enhancers	NHLF	lung
40	chr2:85973000-85974000	Enhancers	Osteobl	bone
41	chr2:85973000-85974200	Enhancers	Fetal Thymus	thymus
42	chr2:85973000-85974800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:85973000-85975000	Weak transcription	HSMMtube	muscle
44	chr2:85973000-85977800	Weak transcription	Brain Germinal Matrix	brain
45	chr2:85973000-85979000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:85973200-85974200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:85973200-85974800	Weak transcription	Fetal Heart	heart
48	chr2:85973200-85976000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:85973400-85973800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:85973400-85973800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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