Variant report

Variant	rs547309962
Chromosome Location	chr2:97426226-97426227
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	MAX	chr2:97425868-97427547	A549	lung:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
2	POLR2A	chr2:97426165-97427172	GM12892	blood:	n/a	n/a
3	MAX	chr2:97425916-97427312	HCT-116	colon:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
4	POLR2A	chr2:97426182-97426914	U87	brain:	n/a	n/a
5	SP1	chr2:97426186-97426741	A549	lung:	n/a	chr2:97426549-97426558 chr2:97426548-97426558 chr2:97426548-97426557 chr2:97426548-97426558 chr2:97426547-97426559 chr2:97426547-97426559 chr2:97426549-97426558
6	EP300	chr2:97426202-97426806	K562	blood:	n/a	chr2:97426235-97426249
7	JUND	chr2:97426210-97426916	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr2:97425965-97427284	ECC-1	luminal epithelium:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
9	MYC	chr2:97426196-97426852	MCF10A-Er-Src	breast:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
10	MAX	chr2:97426046-97426656	H1-hESC	embryonic stem cell:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
11	MAX	chr2:97425953-97426762	ECC-1	luminal epithelium:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
12	CTCF	chr2:97426120-97426270	HRE	kidney:	n/a	n/a
13	USF1	chr2:97426215-97426477	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr2:97425978-97426848	PFSK-1	brain:	n/a	n/a
15	RCOR1	chr2:97426112-97426992	Hela-S3	cervix:	n/a	n/a
16	MAX	chr2:97426140-97427123	NB4	blood:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
17	RCOR1	chr2:97426037-97427339	K562	blood:	n/a	n/a
18	POLR2A	chr2:97426132-97427020	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr2:97426093-97427137	Hela-S3	cervix:	n/a	n/a
20	ZMIZ1	chr2:97426029-97426985	K562	blood:	n/a	n/a
21	POLR2A	chr2:97425902-97427318	MCF10A-Er-Src	breast:	n/a	n/a
22	EGR1	chr2:97426194-97426983	K562	blood:	n/a	chr2:97426548-97426558 chr2:97426435-97426448 chr2:97426544-97426558 chr2:97426575-97426589 chr2:97426543-97426556
23	POLR2A	chr2:97426211-97426862	HCT-116	colon:	n/a	n/a
24	WRNIP1	chr2:97426107-97426631	GM12878	blood:	n/a	n/a
25	ZNF143	chr2:97426224-97427382	GM12878	blood:	n/a	n/a
26	STAT5A	chr2:97426152-97426515	GM12878	blood:	n/a	chr2:97426232-97426243
27	HA-E2F1	chr2:97426105-97426571	MCF-7	breast:	n/a	chr2:97426518-97426532 chr2:97426548-97426557
28	EGR1	chr2:97426093-97426969	MCF-7	breast:	n/a	chr2:97426548-97426558 chr2:97426435-97426448 chr2:97426544-97426558 chr2:97426575-97426589 chr2:97426543-97426556
29	HEY1	chr2:97426222-97426986	HepG2	liver:	n/a	chr2:97426478-97426493 chr2:97426543-97426558
30	HEY1	chr2:97426214-97426859	K562	blood:	n/a	chr2:97426478-97426493 chr2:97426543-97426558
31	MYC	chr2:97426221-97426466	MCF-7	breast:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
32	POLR2A	chr2:97426183-97426557	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:97426210-97427025	A549	lung:	n/a	n/a
34	CBX3	chr2:97426226-97426573	K562	blood:	n/a	n/a
35	MAX	chr2:97426185-97426510	H1-hESC	embryonic stem cell:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
36	MAX	chr2:97426114-97427215	A549	lung:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
37	E2F6	chr2:97426204-97426574	K562	blood:	n/a	chr2:97426518-97426532 chr2:97426548-97426557
38	ELF1	chr2:97425990-97427109	GM12878	blood:	n/a	chr2:97426480-97426489 chr2:97426437-97426446
39	POLR2A	chr2:97426095-97426972	GM12892	blood:	n/a	n/a
40	ELF1	chr2:97426183-97426928	GM12878	blood:	n/a	chr2:97426480-97426489 chr2:97426437-97426446
41	POLR2A	chr2:97426183-97426547	Hela-S3	cervix:	n/a	n/a
42	E2F6	chr2:97425989-97426611	A549	lung:	n/a	chr2:97426518-97426532 chr2:97426548-97426557
43	POLR2A	chr2:97426189-97426547	Hela-S3	cervix:	n/a	n/a
44	MAX	chr2:97425987-97427187	HCT-116	colon:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
45	BCL3	chr2:97425841-97426532	A549	lung:	n/a	chr2:97426481-97426490 chr2:97426435-97426444 chr2:97426480-97426493
46	POLR2A	chr2:97426177-97427542	K562	blood:	n/a	n/a
47	SIN3A	chr2:97426149-97427169	H1-hESC	embryonic stem cell:	n/a	chr2:97426281-97426292
48	MYBL2	chr2:97425988-97427227	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:97426141-97427111	GM15510	blood:	n/a	n/a
50	RCOR1	chr2:97426036-97426478	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
2	chr14:34930899..34931823-chr2:97425912..97426737,2	Hela-S3	cervix:
3	chr2:97407779..97410358-chr2:97422374..97426417,4	K562	blood:
4	chr2:96990031..96992678-chr2:97425792..97428161,2	K562	blood:
5	chr2:97399050..97401934-chr2:97425434..97428071,2	MCF-7	breast:
6	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
7	chr2:97358845..97361710-chr2:97424992..97426847,2	K562	blood:
8	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
9	chr15:65596846..65597612-chr2:97426220..97426721,2	Hela-S3	cervix:
10	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
11	chr2:97425294..97427081-chr2:97533526..97535772,2	K562	blood:
12	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
13	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
14	chr2:97426212..97427746-chr2:97532479..97534253,2	MCF-7	breast:
15	chr2:97422064..97424734-chr2:97424939..97426592,2	MCF-7	breast:
16	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
17	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
18	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
19	chr19:59057645..59060088-chr2:97425289..97427469,2	MCF-7	breast:
20	chr2:97405153..97407675-chr2:97425109..97427390,3	K562	blood:
21	chr2:97301517..97305285-chr2:97426115..97429843,6	MCF-7	breast:

Variant related genes	Relation type
CNNM4	TF binding region
ENSG00000168754	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000249715	Chromatin interaction
ENSG00000114988	Chromatin interaction
ENSG00000130726	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000198885	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	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
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	esv3438902	chr2:97425450-97427998	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
15	esv3445643	chr2:97425775-97427773	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97425000-97426400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:97425600-97426400	Flanking Active TSS	Dnd41	blood
3	chr2:97425800-97426400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:97425800-97426400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:97425800-97426400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr2:97425800-97426400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr2:97425800-97426400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr2:97425800-97426400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr2:97425800-97426400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:97425800-97426400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr2:97425800-97426400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:97425800-97426400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:97425800-97426400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr2:97425800-97426400	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr2:97425800-97426800	Enhancers	Fetal Heart	heart
16	chr2:97425800-97426800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:97426000-97426400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr2:97426000-97426400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:97426000-97426400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:97426000-97426400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:97426000-97426400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:97426000-97426400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr2:97426000-97426400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:97426000-97426400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:97426000-97426400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:97426000-97426400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr2:97426000-97426400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr2:97426000-97426400	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr2:97426000-97426400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr2:97426000-97426400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:97426000-97426400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:97426000-97426400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr2:97426000-97426400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:97426000-97426400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr2:97426000-97426400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:97426000-97426400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr2:97426000-97426400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:97426000-97426400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr2:97426000-97426400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr2:97426000-97426400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:97426000-97426400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:97426000-97426400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:97426000-97426400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:97426000-97426400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:97426000-97426400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:97426000-97426400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr2:97426000-97426400	Flanking Active TSS	Colonic Mucosa	Colon
48	chr2:97426000-97426400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr2:97426000-97426400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr2:97426000-97426400	Flanking Active TSS	Fetal Intestine Large	intestine

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