Variant report

Variant	rs13422834
Chromosome Location	chr2:30476765-30476766
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	PML	chr2:30476652-30477408	K562	blood:	n/a	n/a
2	IRF1	chr2:30475715-30477360	K562	blood:	n/a	chr2:30476614-30476628 chr2:30476614-30476627 chr2:30476611-30476625 chr2:30476614-30476626 chr2:30476615-30476625 chr2:30476612-30476626 chr2:30476614-30476626 chr2:30476615-30476629 chr2:30476609-30476626 chr2:30476614-30476625 chr2:30476613-30476627
3	CCNT2	chr2:30475777-30477399	K562	blood:	n/a	n/a
4	CEBPD	chr2:30476650-30477349	K562	blood:	n/a	n/a
5	REST	chr2:30475603-30476819	A549	lung:	n/a	chr2:30475777-30475790
6	CEBPD	chr2:30476654-30477426	K562	blood:	n/a	n/a
7	PML	chr2:30476585-30477233	K562	blood:	n/a	n/a
8	MYC	chr2:30475648-30477561	K562	blood:	n/a	chr2:30475974-30475985
9	POLR2A	chr2:30475781-30477145	K562	blood:	n/a	n/a
10	NR2F2	chr2:30476682-30477333	K562	blood:	n/a	n/a
11	HCFC1	chr2:30475814-30476856	K562	blood:	n/a	n/a
12	MXI1	chr2:30475565-30477348	IMR90	lung:	n/a	n/a
13	JUN	chr2:30475558-30478014	K562	blood:	n/a	chr2:30475991-30476002
14	POLR2A	chr2:30475616-30477288	PBDE	blood:	n/a	n/a
15	BHLHE40	chr2:30476718-30477112	K562	blood:	n/a	n/a
16	POLR2A	chr2:30476701-30477315	K562	blood:	n/a	n/a
17	TEAD4	chr2:30475600-30477422	K562	blood:	n/a	n/a
18	POLR2A	chr2:30476733-30477057	K562	blood:	n/a	n/a
19	POLR2A	chr2:30475462-30477109	SK-N-MC	brain:	n/a	n/a
20	IRF1	chr2:30476636-30477406	K562	blood:	n/a	n/a
21	MAFK	chr2:30475809-30477061	K562	blood:	n/a	chr2:30476623-30476640 chr2:30476097-30476108 chr2:30476095-30476109
22	E2F6	chr2:30476707-30476940	K562	blood:	n/a	n/a
23	TAL1	chr2:30475796-30477437	K562	blood:	n/a	n/a
24	RCOR1	chr2:30476716-30477292	K562	blood:	n/a	n/a
25	ZNF274	chr2:30475631-30477310	K562	blood:	n/a	n/a
26	EP300	chr2:30475628-30477686	K562	blood:	n/a	n/a
27	GATA2	chr2:30476755-30477169	K562	blood:	n/a	n/a
28	POLR2A	chr2:30475522-30479423	A549	lung:	n/a	n/a
29	POLR2A	chr2:30475619-30477342	K562	blood:	n/a	n/a
30	TBL1XR1	chr2:30475713-30477260	K562	blood:	n/a	n/a
31	GATA1	chr2:30475558-30477534	K562	blood:	n/a	chr2:30476141-30476148 chr2:30476277-30476293 chr2:30476279-30476286 chr2:30476134-30476155 chr2:30476141-30476148 chr2:30476141-30476148 chr2:30475991-30476000
32	POLR2A	chr2:30476727-30477252	K562	blood:	n/a	n/a
33	STAT5A	chr2:30476633-30477408	K562	blood:	n/a	n/a
34	KAP1	chr2:30475664-30477261	K562	blood:	n/a	n/a
35	CEBPB	chr2:30476618-30477223	K562	blood:	n/a	n/a
36	MYC	chr2:30476663-30477298	K562	blood:	n/a	n/a
37	NR2F2	chr2:30475461-30477445	K562	blood:	n/a	n/a
38	SMARCA4	chr2:30475820-30477396	K562	blood:	n/a	n/a
39	MAX	chr2:30476699-30477015	K562	blood:	n/a	n/a
40	EP300	chr2:30475752-30477392	K562	blood:	n/a	n/a
41	MAX	chr2:30476660-30477039	K562	blood:	n/a	n/a
42	TEAD4	chr2:30476607-30477423	K562	blood:	n/a	n/a
43	BACH1	chr2:30475845-30476983	K562	blood:	n/a	n/a
44	ZNF143	chr2:30475861-30477260	K562	blood:	n/a	n/a
45	GATA2	chr2:30476737-30477362	K562	blood:	n/a	n/a
46	TBL1XR1	chr2:30475692-30477354	K562	blood:	n/a	n/a
47	TRIM28	chr2:30476669-30477289	K562	blood:	n/a	n/a
48	RCOR1	chr2:30476745-30477171	K562	blood:	n/a	n/a
49	GATA1	chr2:30475641-30477410	PBDE	blood:	n/a	chr2:30476141-30476148 chr2:30476277-30476293 chr2:30476279-30476286 chr2:30476134-30476155 chr2:30476141-30476148 chr2:30476141-30476148 chr2:30475991-30476000
50	STAT5A	chr2:30476687-30477221	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:30474584..30477299-chr2:30489169..30490893,2	K562	blood:
2	chr2:30452787..30458792-chr2:30474216..30479125,11	K562	blood:
3	chr2:30412652..30418181-chr2:30474392..30478394,5	K562	blood:
4	chr2:30470010..30473545-chr2:30474573..30477601,4	K562	blood:
5	chr2:30470929..30473564-chr2:30474573..30477601,4	K562	blood:
6	chr2:30475603..30478549-chr2:30478723..30480577,2	K562	blood:
7	chr2:30451092..30457677-chr2:30474497..30480716,15	K562	blood:
8	chr2:30476110..30477763-chr2:30668991..30671262,2	K562	blood:
9	chr2:30459999..30464804-chr2:30474137..30477672,6	K562	blood:
10	chr2:30475438..30481096-chr2:30481124..30485591,9	K562	blood:
11	chr2:30475984..30481096-chr2:30481124..30486276,10	K562	blood:
12	chr2:30476489..30478735-chr2:30510499..30512254,2	K562	blood:

Variant related genes	Relation type
ENSG00000256261	TF binding region
ENSG00000256261	Chromatin interaction
ENSG00000213626	Chromatin interaction
ENSG00000172954	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1001202	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001203	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185575	1.00[YRI][hapmap]
rs11127261	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127262	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675079	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679132	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679137	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681350	1.00[ASN][1000 genomes]
rs11687193	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11688651	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690392	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690435	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690629	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690883	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11694534	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694679	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714304	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996578	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027149	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030064	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030740	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs34097147	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35163883	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952114	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62141090	1.00[ASN][1000 genomes]
rs62141122	1.00[ASN][1000 genomes]
rs6736034	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs829585	1.00[ASN][1000 genomes]
rs906864	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9967840	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv2662	chr2:30462905-30495134	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30457800-30481000	Weak transcription	Gastric	stomach
2	chr2:30461000-30479800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:30465400-30480000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:30466000-30477000	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr2:30466200-30480400	Weak transcription	Fetal Brain Male	brain
6	chr2:30467600-30479600	Weak transcription	Fetal Brain Female	brain
7	chr2:30470400-30478000	Enhancers	Left Ventricle	heart
8	chr2:30470400-30479600	Genic enhancers	Fetal Thymus	thymus
9	chr2:30471000-30484400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:30471200-30479600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:30471200-30482000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:30471400-30479400	Enhancers	Placenta	Placenta
13	chr2:30471800-30481600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:30472200-30478800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:30472200-30480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:30472400-30478200	Enhancers	Right Atrium	heart
17	chr2:30472600-30480000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:30472600-30483400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:30473000-30479600	Enhancers	Fetal Heart	heart
20	chr2:30473200-30480000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:30473400-30477600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:30473400-30480800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:30473400-30480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:30473600-30477200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:30474000-30476800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr2:30474000-30477200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:30474200-30477000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:30474200-30477200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:30474200-30478000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:30474200-30479400	Enhancers	Fetal Intestine Large	intestine
31	chr2:30474200-30480800	Enhancers	Pancreas	Pancrea
32	chr2:30474400-30476800	Enhancers	NHLF	lung
33	chr2:30474400-30477800	Enhancers	Right Ventricle	heart
34	chr2:30474400-30481400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:30474600-30477000	Enhancers	NH-A	brain
36	chr2:30474600-30477600	Enhancers	Fetal Intestine Small	intestine
37	chr2:30474600-30477600	Enhancers	Small Intestine	intestine
38	chr2:30474800-30476800	Enhancers	Rectal Smooth Muscle	rectum
39	chr2:30474800-30477000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:30474800-30477000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:30474800-30477000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:30474800-30477200	Enhancers	Stomach Mucosa	stomach
43	chr2:30474800-30478000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr2:30475000-30476800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:30475000-30477200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr2:30475200-30476800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr2:30475200-30477000	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:30475200-30477000	Enhancers	NHDF-Ad	bronchial
49	chr2:30475200-30478200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:30475400-30476800	Enhancers	HUES6 Cell Line	embryonic stem cell

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