Variant report

Variant	rs574383863
Chromosome Location	chr1:212605494-212605495
allele	C/G
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	EGR1	chr1:212605482-212605914	K562	blood:	n/a	chr1:212605675-212605689 chr1:212605699-212605713

No.	Distal block	Cell Line	Cell type
1	chr1:212587912..212590110-chr1:212604889..212609190,4	K562	blood:
2	chr1:212596755..212599311-chr1:212603910..212605843,2	MCF-7	breast:
3	chr1:212585974..212594847-chr1:212598812..212609579,19	K562	blood:
4	chr1:212598606..212601343-chr1:212603803..212606120,2	K562	blood:
5	chr1:212604504..212608752-chr1:212780786..212783858,6	K562	blood:
6	chr1:212591382..212593654-chr1:212604322..212606198,2	K562	blood:
7	chr1:212586060..212592297-chr1:212603893..212609565,9	MCF-7	breast:

Variant related genes	Relation type
NENF	TF binding region
ENSG00000162772	Chromatin interaction
ENSG00000065600	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	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3389348	chr1:212605479-212607477	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:212591000-212605600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:212598400-212605600	Weak transcription	Brain Substantia Nigra	brain
3	chr1:212598800-212605600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:212602800-212605600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:212603400-212605600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:212603400-212606000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:212603800-212605600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:212603800-212605800	Enhancers	Fetal Intestine Large	intestine
9	chr1:212604000-212605600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:212604000-212605600	Weak transcription	Fetal Heart	heart
11	chr1:212604000-212605800	Enhancers	Fetal Intestine Small	intestine
12	chr1:212604200-212605600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:212604200-212605600	Enhancers	HepG2	liver
14	chr1:212604200-212605800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:212604400-212605600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:212604400-212605600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:212604400-212605600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:212604400-212605600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:212604400-212605600	Weak transcription	NHDF-Ad	bronchial
20	chr1:212604400-212605800	Weak transcription	Fetal Stomach	stomach
21	chr1:212604400-212605800	Enhancers	HUVEC	blood vessel
22	chr1:212604400-212606000	Enhancers	Small Intestine	intestine
23	chr1:212604600-212605600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:212604600-212605600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr1:212604600-212605600	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:212604600-212605600	Enhancers	GM12878-XiMat	blood
27	chr1:212604600-212605800	Enhancers	Stomach Mucosa	stomach
28	chr1:212604600-212606400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:212604800-212605600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:212604800-212605600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr1:212604800-212605600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:212604800-212605600	Enhancers	Brain Anterior Caudate	brain
33	chr1:212604800-212605600	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:212604800-212605600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr1:212604800-212605800	Weak transcription	Primary T cells from cord blood	blood
36	chr1:212604800-212605800	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:212604800-212605800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:212604800-212605800	Enhancers	Placenta	Placenta
39	chr1:212605000-212605600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:212605000-212605600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:212605000-212605600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:212605000-212605600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:212605000-212605600	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:212605000-212605600	Enhancers	Colonic Mucosa	Colon
45	chr1:212605000-212605600	Enhancers	Left Ventricle	heart
46	chr1:212605000-212605600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr1:212605000-212605600	Enhancers	Right Atrium	heart
48	chr1:212605000-212605600	Enhancers	Right Ventricle	heart
49	chr1:212605000-212605600	Enhancers	K562	blood
50	chr1:212605000-212605800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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