Variant report

Variant	rs147924819
Chromosome Location	chr1:212687297-212687298
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212683483..212692182-chr1:212779770..212786326,12	K562	blood:
2	chr1:212686498..212689410-chr1:212730977..212733279,2	MCF-7	breast:
3	chr1:212675568..212680156-chr1:212685148..212688870,4	K562	blood:
4	chr1:212686747..212688926-chr1:212729063..212731425,2	K562	blood:
5	chr1:212685711..212688153-chr1:212791617..212793606,2	K562	blood:
6	chr1:212663187..212667039-chr1:212686323..212689300,3	K562	blood:
7	chr1:212683483..212690052-chr1:212778903..212785088,8	K562	blood:
8	chr1:212686720..212688652-chr1:212736381..212737960,2	K562	blood:
9	chr1:212685969..212688191-chr1:212785458..212787889,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000260805	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
8	esv3347790	chr1:212687079-212689577	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212681000-212688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212682600-212687400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:212685200-212689000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:212685400-212688000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:212685600-212687600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr1:212685800-212687600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr1:212686200-212687400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr1:212686200-212687600	Bivalent Enhancer	NHDF-Ad	bronchial
9	chr1:212686200-212687800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:212686200-212687800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
11	chr1:212686200-212687800	Bivalent Enhancer	HSMM	muscle
12	chr1:212686200-212687800	Enhancers	HSMMtube	muscle
13	chr1:212686200-212688200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:212686200-212688400	Enhancers	NH-A	brain
15	chr1:212686400-212687400	Flanking Active TSS	Hela-S3	cervix
16	chr1:212686400-212687400	Bivalent Enhancer	HMEC	breast
17	chr1:212686400-212687600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:212686400-212687600	Enhancers	Right Ventricle	heart
19	chr1:212686400-212687600	Enhancers	Spleen	Spleen
20	chr1:212686400-212687800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:212686400-212687800	Bivalent Enhancer	NHLF	lung
22	chr1:212686400-212688000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:212686400-212688000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:212686400-212688000	Bivalent Enhancer	Placenta	Placenta
25	chr1:212686400-212688000	Enhancers	Left Ventricle	heart
26	chr1:212686400-212688400	Enhancers	Pancreas	Pancrea
27	chr1:212686600-212687400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:212686600-212687400	Flanking Active TSS	A549	lung
29	chr1:212686600-212687600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:212686600-212688000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:212686800-212687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:212686800-212687400	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr1:212686800-212687400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr1:212686800-212687600	Enhancers	Right Atrium	heart
35	chr1:212686800-212687800	Bivalent Enhancer	Psoas Muscle	Psoas
36	chr1:212687000-212687400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:212687000-212687400	Enhancers	Aorta	Aorta
38	chr1:212687000-212687400	Enhancers	Brain Anterior Caudate	brain
39	chr1:212687000-212687400	Bivalent Enhancer	Brain Germinal Matrix	brain
40	chr1:212687000-212687400	Enhancers	Brain Hippocampus Middle	brain
41	chr1:212687000-212687400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:212687000-212687400	Enhancers	Brain Substantia Nigra	brain
43	chr1:212687000-212687400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
44	chr1:212687000-212687400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr1:212687000-212687600	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr1:212687000-212687600	Bivalent Enhancer	Fetal Stomach	stomach
47	chr1:212687000-212687800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr1:212687000-212687800	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr1:212687000-212688000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr1:212687000-212688000	Enhancers	Fetal Heart	heart

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