Variant report

Variant	rs536446495
Chromosome Location	chr2:97480975-97480976
allele	A/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	MAFK	chr2:97480692-97481707	Hela-S3	cervix:	n/a	n/a
2	MTA3	chr2:97480937-97481766	GM12878	blood:	n/a	n/a
3	CTCF	chr2:97480920-97481070	HPAF	blood vessel:	n/a	n/a
4	MAX	chr2:97480968-97483512	A549	lung:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
5	POLR2A	chr2:97480971-97482986	MCF10A-Er-Src	breast:	n/a	n/a
6	HCFC1	chr2:97480652-97483529	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr2:97480896-97483426	Hela-S3	cervix:	n/a	n/a
8	MAX	chr2:97480929-97483545	HepG2	liver:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
9	MXI1	chr2:97480568-97483974	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:97480952-97484103	HepG2	liver:	n/a	n/a
11	MYC	chr2:97480972-97483303	K562	blood:	n/a	chr2:97481548-97481558 chr2:97481901-97481911
12	IRF1	chr2:97480744-97480977	K562	blood:	n/a	n/a
13	MAFK	chr2:97480723-97481462	HepG2	liver:	n/a	n/a
14	UBTF	chr2:97480950-97483377	K562	blood:	n/a	n/a
15	POLR2A	chr2:97480972-97483270	Raji	blood:	n/a	n/a
16	MAZ	chr2:97480698-97482884	IMR90	lung:	n/a	chr2:97481901-97481911
17	USF2	chr2:97480973-97481572	Hela-S3	cervix:	n/a	n/a
18	REST	chr2:97480782-97482649	H1-neurons	neurons:	n/a	chr2:97481304-97481313 chr2:97481673-97481686 chr2:97481720-97481733
19	CTCF	chr2:97480904-97483033	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr2:97480864-97483451	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97302043..97304772-chr2:97480834..97485283,4	K562	blood:
2	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
3	chr2:97480158..97482561-chr2:97778545..97780856,2	MCF-7	breast:
4	chr2:97480273..97481938-chr2:97629439..97631749,2	MCF-7	breast:
5	chr2:97480034..97481965-chr2:97506952..97509258,2	MCF-7	breast:
6	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
7	chr2:97480014..97482644-chr2:97518894..97524629,5	MCF-7	breast:
8	chr2:97480844..97484629-chr2:97532869..97536982,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD23-2	chr2:97480684-97481990	NONHSAT072586
2	lnc-ANKRD23-2	chr2:97480968-97481762	NONHSAT072587

Variant related genes	Relation type
CNNM3	TF binding region
ENSG00000273265	TF binding region
ENSG00000158158	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000135976	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	esv3419974	chr2:97480425-97484723	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv3522461	chr2:97480625-97484323	Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:97454600-97481000	Weak transcription	NHEK	skin
3	chr2:97465200-97481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:97465400-97481200	Weak transcription	Small Intestine	intestine
5	chr2:97466000-97481200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:97466800-97481000	Weak transcription	HMEC	breast
7	chr2:97467800-97481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:97467800-97481000	Weak transcription	Fetal Brain Male	brain
9	chr2:97468000-97481000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:97473000-97481000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:97473600-97481000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:97473800-97481000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:97474200-97481000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:97474600-97481000	Weak transcription	Ovary	ovary
15	chr2:97475200-97481000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:97475400-97481000	Weak transcription	Aorta	Aorta
17	chr2:97476200-97481000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:97476200-97481200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:97476400-97481000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:97476400-97481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:97476400-97481000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:97476400-97481000	Weak transcription	Pancreas	Pancrea
23	chr2:97476400-97481000	Weak transcription	Stomach Mucosa	stomach
24	chr2:97476600-97481000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:97476600-97481000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:97476600-97481000	Weak transcription	Colonic Mucosa	Colon
27	chr2:97476600-97481200	Weak transcription	Esophagus	oesophagus
28	chr2:97476800-97481000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:97476800-97481200	Weak transcription	Gastric	stomach
30	chr2:97476800-97481200	Weak transcription	Lung	lung
31	chr2:97477000-97481000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:97477000-97481000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:97477200-97481000	Weak transcription	Placenta	Placenta
34	chr2:97477200-97481000	Weak transcription	Thymus	Thymus
35	chr2:97477200-97481000	Weak transcription	Spleen	Spleen
36	chr2:97477400-97481000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:97477400-97481000	Weak transcription	Fetal Brain Female	brain
38	chr2:97478000-97481000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:97478200-97481000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:97478200-97481000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:97478200-97481000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:97478200-97481000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:97478200-97481000	Weak transcription	HSMMtube	muscle
44	chr2:97478400-97481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:97478400-97481000	Weak transcription	Right Atrium	heart
46	chr2:97478400-97481000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:97478400-97481000	Weak transcription	NHDF-Ad	bronchial
48	chr2:97478400-97481000	Weak transcription	NHLF	lung
49	chr2:97478400-97481200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:97478600-97481000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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