Variant report

Variant	rs12130085
Chromosome Location	chr1:61545172-61545173
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	MAZ	chr1:61545164-61545975	K562	blood:	n/a	chr1:61545685-61545695 chr1:61545703-61545713
2	MYC	chr1:61545008-61545207	MCF10A-Er-Src	breast:	n/a	n/a
3	RFX5	chr1:61545015-61545215	K562	blood:	n/a	n/a
4	IRF1	chr1:61545099-61546116	K562	blood:	n/a	chr1:61545335-61545348
5	KAP1	chr1:61544781-61546242	HEK293	kidney:	n/a	chr1:61545730-61545738
6	EP300	chr1:61545123-61546242	K562	blood:	n/a	n/a
7	NR2F2	chr1:61544946-61546240	K562	blood:	n/a	n/a
8	EP300	chr1:61544987-61545365	SK-N-SH_RA	brain:	n/a	chr1:61545072-61545080
9	NFIC	chr1:61544853-61546236	ECC-1	luminal epithelium:	n/a	chr1:61545154-61545171
10	MYC	chr1:61545033-61545989	K562	blood:	n/a	chr1:61545685-61545695 chr1:61545703-61545713
11	ZNF263	chr1:61544948-61545924	HEK293-T-REx	kidney:	n/a	chr1:61545395-61545404
12	NFIC	chr1:61544831-61546197	SK-N-SH	brain:	n/a	chr1:61545154-61545171
13	TCF12	chr1:61544853-61546127	SK-N-SH	brain:	n/a	n/a
14	BHLHE40	chr1:61545137-61546123	K562	blood:	n/a	n/a
15	EP300	chr1:61545002-61545979	SK-N-SH_RA	brain:	n/a	chr1:61545072-61545080
16	MXI1	chr1:61541849-61550122	SK-N-SH	brain:	n/a	chr1:61544448-61544463
17	NFIC	chr1:61544855-61546321	ECC-1	luminal epithelium:	n/a	chr1:61545154-61545171
18	MYC	chr1:61545056-61545291	MCF10A-Er-Src	breast:	n/a	n/a
19	TBL1XR1	chr1:61545123-61546408	K562	blood:	n/a	n/a
20	RAD21	chr1:61545013-61545307	SK-N-SH_RA	brain:	n/a	n/a
21	CBX3	chr1:61545056-61545961	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:61513320..61528030-chr1:61539604..61553659,57	K562	blood:
2	chr1:61443627..61446348-chr1:61543642..61545335,2	K562	blood:
3	chr1:61512478..61530748-chr1:61539371..61553659,68	K562	blood:
4	chr1:61541387..61547328-chr1:61547444..61551394,9	MCF-7	breast:
5	chr1:61543393..61545559-chr1:61710850..61712816,2	K562	blood:

Variant related genes	Relation type
NFIA	TF binding region
ENSG00000263380	Chromatin interaction
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10789092	0.86[CHD][hapmap];0.84[TSI][hapmap]
rs11207690	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11207691	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11207692	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11207694	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207695	0.86[CHD][hapmap];0.82[TSI][hapmap]
rs11207702	0.83[MKK][hapmap]
rs12126737	0.87[CHD][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap]
rs12142294	0.81[CHD][hapmap]
rs12402756	0.82[CEU][hapmap]
rs12403502	0.87[CHD][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap]
rs12404093	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12406426	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12565220	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs1573249	1.00[JPT][hapmap]
rs17121533	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17121702	0.83[MKK][hapmap]
rs17121705	0.83[MKK][hapmap]
rs1832184	1.00[MKK][hapmap]
rs2051153	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4620575	0.84[TSI][hapmap]
rs4915584	1.00[JPT][hapmap]
rs4915585	1.00[JPT][hapmap]
rs4915725	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs4915726	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4915729	0.87[CHD][hapmap];0.82[TSI][hapmap]
rs4915731	0.83[MKK][hapmap]
rs904271	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs924274	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs964091	0.84[TSI][hapmap]

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61543200-61547200	Weak transcription	Pancreas	Pancrea
2	chr1:61543200-61547400	Weak transcription	Lung	lung
3	chr1:61543800-61545600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:61543800-61545800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr1:61543800-61547200	Weak transcription	Esophagus	oesophagus
6	chr1:61544000-61545400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:61544000-61545400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:61544000-61545600	Flanking Active TSS	Fetal Lung	lung
9	chr1:61544000-61545600	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr1:61544000-61545600	Flanking Active TSS	K562	blood
11	chr1:61544000-61545800	Weak transcription	Ovary	ovary
12	chr1:61544000-61546400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:61544200-61545200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr1:61544200-61545200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr1:61544200-61545200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:61544200-61545200	Enhancers	Brain Germinal Matrix	brain
17	chr1:61544200-61545200	Enhancers	Fetal Intestine Small	intestine
18	chr1:61544200-61545200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr1:61544200-61545200	Enhancers	NH-A	brain
20	chr1:61544200-61545400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr1:61544200-61545400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr1:61544200-61545400	Weak transcription	Aorta	Aorta
23	chr1:61544200-61545400	Enhancers	Liver	Liver
24	chr1:61544200-61545400	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:61544200-61545600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:61544200-61545800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:61544200-61545800	Enhancers	Psoas Muscle	Psoas
28	chr1:61544200-61546200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:61544200-61547000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:61544200-61547000	Enhancers	Placenta	Placenta
31	chr1:61544200-61547000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr1:61544200-61547200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:61544200-61547200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:61544200-61547200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:61544400-61545200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:61544400-61545200	Enhancers	Colonic Mucosa	Colon
37	chr1:61544400-61545200	Enhancers	Fetal Kidney	kidney
38	chr1:61544400-61545200	Enhancers	Stomach Mucosa	stomach
39	chr1:61544400-61545200	Enhancers	A549	lung
40	chr1:61544400-61545400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
41	chr1:61544400-61545400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:61544400-61545400	Enhancers	Brain Substantia Nigra	brain
43	chr1:61544400-61545400	Enhancers	Fetal Stomach	stomach
44	chr1:61544400-61545400	Enhancers	Thymus	Thymus
45	chr1:61544400-61545400	Enhancers	Osteobl	bone
46	chr1:61544400-61545600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:61544400-61546000	Enhancers	HMEC	breast
48	chr1:61544400-61546200	Bivalent Enhancer	Primary B cells from cord blood	blood
49	chr1:61544400-61546800	Enhancers	Small Intestine	intestine
50	chr1:61544400-61546800	Enhancers	Spleen	Spleen

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