Variant report

Variant	rs563890807
Chromosome Location	chr1:212605647-212605648
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	POLR2A	chr1:212605608-212606900	MCF10A-Er-Src	breast:	n/a	n/a
2	MAX	chr1:212605550-212607019	A549	lung:	n/a	n/a
3	CBX3	chr1:212605512-212606312	K562	blood:	n/a	n/a
4	POLR2A	chr1:212605643-212606458	GM12891	blood:	n/a	n/a
5	MXI1	chr1:212605617-212607548	SK-N-SH	brain:	n/a	chr1:212607146-212607155
6	RCOR1	chr1:212605614-212606362	K562	blood:	n/a	n/a
7	EGR1	chr1:212605482-212605914	K562	blood:	n/a	chr1:212605675-212605689 chr1:212605699-212605713
8	POLR2A	chr1:212605557-212606538	K562	blood:	n/a	n/a
9	EGR1	chr1:212605634-212605776	GM12878	blood:	n/a	chr1:212605675-212605689 chr1:212605699-212605713
10	MTA3	chr1:212605585-212606288	GM12878	blood:	n/a	n/a
11	ZNF263	chr1:212605578-212606797	HEK293-T-REx	kidney:	n/a	n/a
12	POLR2A	chr1:212605605-212606620	HepG2	liver:	n/a	n/a
13	PML	chr1:212605609-212606399	K562	blood:	n/a	n/a
14	POLR2A	chr1:212605613-212606927	MCF10A-Er-Src	breast:	n/a	n/a
15	EGR1	chr1:212605529-212605865	K562	blood:	n/a	chr1:212605675-212605689 chr1:212605699-212605713
16	MAX	chr1:212605544-212606541	HCT-116	colon:	n/a	n/a
17	PML	chr1:212605508-212606439	GM12878	blood:	n/a	n/a

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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212603400-212606000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:212603800-212605800	Enhancers	Fetal Intestine Large	intestine
3	chr1:212604000-212605800	Enhancers	Fetal Intestine Small	intestine
4	chr1:212604200-212605800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:212604400-212605800	Weak transcription	Fetal Stomach	stomach
6	chr1:212604400-212605800	Enhancers	HUVEC	blood vessel
7	chr1:212604400-212606000	Enhancers	Small Intestine	intestine
8	chr1:212604600-212605800	Enhancers	Stomach Mucosa	stomach
9	chr1:212604600-212606400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:212604800-212605800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:212604800-212605800	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:212604800-212605800	Enhancers	Fetal Muscle Leg	muscle
13	chr1:212604800-212605800	Enhancers	Placenta	Placenta
14	chr1:212605000-212605800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:212605000-212606000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:212605000-212606000	Enhancers	Lung	lung
17	chr1:212605000-212606000	Enhancers	Pancreas	Pancrea
18	chr1:212605000-212606000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:212605200-212605800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:212605200-212605800	Enhancers	Fetal Thymus	thymus
21	chr1:212605200-212606000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:212605400-212606000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:212605600-212605800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
24	chr1:212605600-212605800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:212605600-212605800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:212605600-212605800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:212605600-212605800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:212605600-212605800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:212605600-212605800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:212605600-212605800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr1:212605600-212605800	Enhancers	Primary B cells from cord blood	blood
32	chr1:212605600-212605800	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:212605600-212605800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:212605600-212605800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:212605600-212605800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr1:212605600-212605800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:212605600-212605800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:212605600-212605800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr1:212605600-212605800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:212605600-212605800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:212605600-212605800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:212605600-212605800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:212605600-212605800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:212605600-212605800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:212605600-212605800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:212605600-212605800	Flanking Active TSS	Colonic Mucosa	Colon
47	chr1:212605600-212605800	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:212605600-212605800	Enhancers	Psoas Muscle	Psoas
49	chr1:212605600-212605800	Flanking Active TSS	Right Atrium	heart
50	chr1:212605600-212605800	Flanking Active TSS	Right Ventricle	heart

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