Variant report

Variant	rs1480038
Chromosome Location	chr12:26427032-26427033
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	JUND	chr12:26426839-26428137	K562	blood:	n/a	chr12:26427797-26427807 chr12:26427796-26427807 chr12:26427798-26427806 chr12:26427799-26427806
2	MYC	chr12:26426491-26429208	NB4	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807 chr12:26426664-26426673
3	POLR2A	chr12:26426872-26427075	K562	blood:	n/a	n/a
4	GATA3	chr12:26426735-26428341	A549	lung:	n/a	chr12:26427487-26427494 chr12:26427079-26427086 chr12:26427482-26427498 chr12:26427077-26427087 chr12:26427480-26427501 chr12:26427487-26427494 chr12:26427876-26427885 chr12:26427077-26427086 chr12:26427076-26427088 chr12:26427487-26427494 chr12:26427485-26427494
5	TCF7L2	chr12:26426608-26428155	PANC-1	pancreas:	n/a	n/a
6	GATA3	chr12:26427024-26428298	SK-N-SH	brain:	n/a	chr12:26427487-26427494 chr12:26427079-26427086 chr12:26427482-26427498 chr12:26427077-26427087 chr12:26427480-26427501 chr12:26427487-26427494 chr12:26427876-26427885 chr12:26427077-26427086 chr12:26427076-26427088 chr12:26427487-26427494 chr12:26427485-26427494
7	MAX	chr12:26426820-26428285	A549	lung:	n/a	chr12:26427797-26427806 chr12:26427798-26427807
8	KAP1	chr12:26426619-26428103	HEK293	kidney:	n/a	chr12:26427796-26427805 chr12:26427613-26427621 chr12:26427054-26427062
9	BHLHE40	chr12:26426883-26428189	K562	blood:	n/a	n/a
10	EBF1	chr12:26426535-26427293	GM12878	blood:	n/a	chr12:26426820-26426830 chr12:26426821-26426830 chr12:26426819-26426832 chr12:26426820-26426831
11	MAX	chr12:26426869-26428271	A549	lung:	n/a	chr12:26427797-26427806 chr12:26427798-26427807
12	WRNIP1	chr12:26426989-26427267	GM12878	blood:	n/a	n/a
13	JUND	chr12:26426745-26428344	SK-N-SH	brain:	n/a	chr12:26427797-26427807 chr12:26427796-26427807 chr12:26427798-26427806 chr12:26426768-26426782 chr12:26427799-26427806
14	ZNF263	chr12:26426608-26428112	HEK293-T-REx	kidney:	n/a	chr12:26426863-26426884 chr12:26426877-26426886 chr12:26427759-26427768
15	TCF7L2	chr12:26426431-26427826	HEK293	kidney:	n/a	n/a
16	POLR2A	chr12:26426919-26428135	K562	blood:	n/a	n/a
17	UBTF	chr12:26426869-26428122	K562	blood:	n/a	n/a
18	POLR2A	chr12:26426607-26428271	PANC-1	pancreas:	n/a	n/a
19	MAX	chr12:26426917-26428125	K562	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807
20	RCOR1	chr12:26426796-26428186	K562	blood:	n/a	n/a
21	GATA1	chr12:26426923-26428110	PBDE	blood:	n/a	chr12:26427487-26427494 chr12:26427079-26427086 chr12:26427482-26427498 chr12:26427077-26427087 chr12:26427480-26427501 chr12:26427487-26427494 chr12:26427876-26427885 chr12:26427077-26427086 chr12:26427076-26427088 chr12:26427487-26427494 chr12:26427485-26427494
22	CCNT2	chr12:26426907-26428053	K562	blood:	n/a	n/a
23	CTCF	chr12:26427016-26428305	A549	lung:	n/a	chr12:26427595-26427608
24	GATA3	chr12:26426663-26428132	A549	lung:	n/a	chr12:26427487-26427494 chr12:26427079-26427086 chr12:26427482-26427498 chr12:26427077-26427087 chr12:26427480-26427501 chr12:26427487-26427494 chr12:26427876-26427885 chr12:26427077-26427086 chr12:26427076-26427088 chr12:26426706-26426716 chr12:26427487-26427494 chr12:26427485-26427494
25	KAP1	chr12:26426618-26428074	U2OS	brain:	n/a	chr12:26427796-26427805 chr12:26427613-26427621 chr12:26427054-26427062
26	TCF12	chr12:26426999-26428310	A549	lung:	n/a	chr12:26427785-26427794
27	CTCF	chr12:26426932-26427046	K562	blood:	n/a	chr12:26426982-26426991
28	E2F6	chr12:26427029-26428304	A549	lung:	n/a	n/a
29	RCOR1	chr12:26427026-26428377	IMR90	lung:	n/a	n/a
30	MYC	chr12:26426627-26428131	K562	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807 chr12:26426664-26426673
31	MAFK	chr12:26427017-26428072	K562	blood:	n/a	chr12:26427784-26427799
32	TAL1	chr12:26426879-26427202	K562	blood:	n/a	n/a
33	ZBTB7A	chr12:26426838-26427041	K562	blood:	n/a	n/a
34	TBL1XR1	chr12:26426922-26428124	K562	blood:	n/a	n/a
35	MAZ	chr12:26426624-26428151	K562	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807 chr12:26426664-26426673
36	EP300	chr12:26426867-26428181	K562	blood:	n/a	chr12:26428034-26428044 chr12:26427797-26427806
37	JUN	chr12:26426109-26428328	K562	blood:	n/a	chr12:26427797-26427807 chr12:26427798-26427806 chr12:26426768-26426782 chr12:26427799-26427806
38	ZMIZ1	chr12:26426976-26428137	K562	blood:	n/a	n/a
39	GATA3	chr12:26426999-26428256	SK-N-SH	brain:	n/a	chr12:26427487-26427494 chr12:26427079-26427086 chr12:26427482-26427498 chr12:26427077-26427087 chr12:26427480-26427501 chr12:26427487-26427494 chr12:26427876-26427885 chr12:26427077-26427086 chr12:26427076-26427088 chr12:26427487-26427494 chr12:26427485-26427494
40	MAX	chr12:26426511-26429193	NB4	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807 chr12:26426664-26426673
41	IRF1	chr12:26426993-26428098	K562	blood:	n/a	chr12:26427797-26427806 chr12:26427690-26427704 chr12:26427692-26427706
42	POLR2A	chr12:26426522-26428310	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:26397687..26399446-chr12:26426003..26429309,3	K562	blood:
2	chr12:26275957..26278285-chr12:26426218..26428121,2	MCF-7	breast:
3	chr12:26397649..26399446-chr12:26426022..26429309,3	K562	blood:
4	chr12:26266368..26268567-chr12:26426374..26428182,2	MCF-7	breast:
5	chr12:26265923..26267917-chr12:26426739..26429196,2	K562	blood:
6	chr12:26417164..26419767-chr12:26425510..26427946,2	K562	blood:
7	chr12:26422309..26424340-chr12:26424935..26427133,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255750	TF binding region
ENSG00000123095	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11048441	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1355734	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1383115	0.87[AFR][1000 genomes]
rs1463583	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480031	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480040	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1533249	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1913234	0.94[ASN][1000 genomes]
rs2343875	0.94[ASN][1000 genomes]
rs6487545	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7295825	0.94[ASN][1000 genomes]
rs7956017	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7963516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976541	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv983496	chr12:26407082-26428038	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26421000-26429000	Enhancers	Fetal Intestine Small	intestine
2	chr12:26421800-26435800	Weak transcription	Gastric	stomach
3	chr12:26422600-26429200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:26423200-26427200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:26423800-26427400	Enhancers	NHEK	skin
6	chr12:26423800-26429000	Enhancers	HMEC	breast
7	chr12:26423800-26429200	Enhancers	Stomach Mucosa	stomach
8	chr12:26424000-26427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:26424000-26429000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:26424000-26429200	Enhancers	Fetal Intestine Large	intestine
11	chr12:26424000-26431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:26424200-26429000	Enhancers	Fetal Muscle Leg	muscle
13	chr12:26424400-26428400	Enhancers	Right Atrium	heart
14	chr12:26424400-26430000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:26424600-26427200	Enhancers	Brain Hippocampus Middle	brain
16	chr12:26424600-26427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:26424600-26429000	Enhancers	Brain Substantia Nigra	brain
18	chr12:26424600-26429000	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:26424600-26429000	Enhancers	Placenta	Placenta
20	chr12:26424600-26429000	Enhancers	Fetal Thymus	thymus
21	chr12:26424600-26429200	Enhancers	Brain Anterior Caudate	brain
22	chr12:26424600-26431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:26424600-26433400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:26424800-26427400	Enhancers	HepG2	liver
25	chr12:26424800-26447000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:26425000-26427200	Weak transcription	Fetal Lung	lung
27	chr12:26425000-26427400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:26425000-26427400	Weak transcription	Colonic Mucosa	Colon
29	chr12:26425200-26427600	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:26425400-26427200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:26425400-26427200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:26425400-26427400	Weak transcription	Fetal Heart	heart
33	chr12:26425400-26427400	Weak transcription	Psoas Muscle	Psoas
34	chr12:26425400-26428200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:26425800-26431600	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:26426000-26428200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:26426000-26429800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:26426000-26432200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:26426200-26427400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:26426400-26427200	Enhancers	Osteobl	bone
41	chr12:26426400-26427400	Enhancers	NH-A	brain
42	chr12:26426400-26429000	Enhancers	HSMM	muscle
43	chr12:26426400-26429200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:26426600-26427400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:26426600-26428200	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:26426600-26428200	Enhancers	Fetal Stomach	stomach
47	chr12:26426600-26428200	Enhancers	HSMMtube	muscle
48	chr12:26426600-26428400	Enhancers	Pancreas	Pancrea
49	chr12:26426600-26428600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:26426600-26429000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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