Variant report

Variant	rs72911543
Chromosome Location	chr1:59279644-59279645
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	ZNF217	chr1:59279602-59280385	MCF-7	breast:	n/a	n/a
2	EP300	chr1:59279404-59280149	T-47D	breast:	n/a	n/a
3	GATA3	chr1:59279477-59280357	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:59279375-59282505	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr1:59279382-59282566	MCF-7	breast:	n/a	n/a
6	CEBPB	chr1:59279563-59280174	HepG2	liver:	n/a	chr1:59279976-59279987 chr1:59279927-59279935
7	NR2F2	chr1:59279472-59280330	MCF-7	breast:	n/a	n/a
8	NR2F2	chr1:59279428-59280330	MCF-7	breast:	n/a	n/a
9	MAX	chr1:59279489-59281410	MCF-7	breast:	n/a	chr1:59281189-59281198 chr1:59279816-59279832 chr1:59279719-59279728 chr1:59280253-59280262 chr1:59279827-59279834 chr1:59279823-59279838
10	POLR2A	chr1:59279620-59282507	HUVEC	blood vessel:	n/a	n/a
11	CEBPB	chr1:59279637-59280166	MCF-7	breast:	n/a	chr1:59279976-59279987 chr1:59279927-59279935
12	HA-E2F1	chr1:59279505-59282561	MCF-7	breast:	n/a	chr1:59282066-59282075 chr1:59279927-59279936 chr1:59280484-59280491 chr1:59281102-59281114
13	RCOR1	chr1:59279439-59279699	HepG2	liver:	n/a	n/a
14	SP1	chr1:59279596-59282558	HCT-116	colon:	n/a	chr1:59280065-59280075 chr1:59281157-59281167 chr1:59280065-59280075 chr1:59281157-59281167 chr1:59280064-59280076 chr1:59281098-59281112 chr1:59281163-59281177 chr1:59280059-59280069
15	TFAP2C	chr1:59279430-59282455	Hela-S3	cervix:	n/a	chr1:59279720-59279735
16	POLR2A	chr1:59279600-59282478	MCF-7	breast:	n/a	n/a
17	TFAP2A	chr1:59279363-59280398	Hela-S3	cervix:	n/a	chr1:59279720-59279735 chr1:59279721-59279732 chr1:59279721-59279732 chr1:59279721-59279732 chr1:59279721-59279732
18	POLR2A	chr1:59279615-59281694	ECC-1	luminal epithelium:	n/a	n/a
19	RCOR1	chr1:59278366-59282759	IMR90	lung:	n/a	n/a
20	MAX	chr1:59279636-59282579	HCT-116	colon:	n/a	chr1:59281189-59281198 chr1:59279816-59279832 chr1:59279719-59279728 chr1:59280253-59280262 chr1:59279827-59279834 chr1:59279823-59279838

No.	Distal block	Cell Line	Cell type
1	chr1:59279129..59280859-chr1:59347455..59349368,2	K562	blood:
2	chr1:59279353..59283854-chr1:59287313..59291525,6	MCF-7	breast:
3	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
4	chr1:59279109..59280911-chr1:59291721..59294413,2	MCF-7	breast:
5	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
6	chr1:59279369..59282052-chr1:60171210..60173225,3	MCF-7	breast:
7	chr1:59279457..59282981-chr1:59283687..59286487,4	K562	blood:
8	chr1:59279471..59282455-chr1:59331094..59333680,2	MCF-7	breast:
9	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
10	chr1:59279289..59281587-chr1:59349571..59351279,3	MCF-7	breast:
11	chr1:59279591..59281416-chr1:59282634..59284464,2	MCF-7	breast:
12	chr1:59091520..59094170-chr1:59279490..59282356,2	MCF-7	breast:
13	chr1:59279498..59283509-chr1:59392349..59395635,3	MCF-7	breast:
14	chr1:59279403..59281685-chr1:59758871..59761962,3	MCF-7	breast:
15	chr1:59279066..59281717-chr1:59892952..59895957,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272226	TF binding region
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs3885883	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56047424	1.00[EUR][1000 genomes]
rs57500803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59164731	1.00[EUR][1000 genomes]
rs59193866	1.00[EUR][1000 genomes]
rs59558908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60869213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61294750	1.00[EUR][1000 genomes]
rs61659376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911542	1.00[ASN][1000 genomes]
rs72911546	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913576	1.00[EUR][1000 genomes]
rs72913582	1.00[EUR][1000 genomes]
rs72913585	1.00[EUR][1000 genomes]
rs72913586	1.00[EUR][1000 genomes]
rs72913589	1.00[EUR][1000 genomes]
rs72913594	1.00[EUR][1000 genomes]
rs72913595	1.00[EUR][1000 genomes]
rs72913598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913599	1.00[EUR][1000 genomes]
rs72913601	1.00[EUR][1000 genomes]
rs72915503	1.00[EUR][1000 genomes]
rs72915504	1.00[EUR][1000 genomes]
rs72915505	1.00[EUR][1000 genomes]
rs72915506	1.00[EUR][1000 genomes]
rs72915521	1.00[EUR][1000 genomes]
rs72915522	1.00[EUR][1000 genomes]
rs72915524	1.00[EUR][1000 genomes]
rs72915527	1.00[EUR][1000 genomes]
rs72919563	1.00[EUR][1000 genomes]
rs72919564	1.00[EUR][1000 genomes]
rs72919573	1.00[EUR][1000 genomes]
rs72919582	1.00[EUR][1000 genomes]
rs72919585	1.00[EUR][1000 genomes]
rs72919586	1.00[EUR][1000 genomes]
rs7519169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59254000-59281000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:59265000-59280400	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:59268600-59280400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:59270200-59280000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:59274600-59279800	Enhancers	HMEC	breast
6	chr1:59274600-59280200	Enhancers	NHEK	skin
7	chr1:59274600-59281400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:59274800-59280000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:59274800-59280000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:59275200-59280600	Weak transcription	Fetal Brain Male	brain
11	chr1:59275400-59279800	Weak transcription	Liver	Liver
12	chr1:59275400-59280800	Weak transcription	Fetal Heart	heart
13	chr1:59275600-59279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:59275600-59280400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:59275600-59280400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:59275600-59280400	Weak transcription	K562	blood
17	chr1:59275600-59280600	Weak transcription	NHDF-Ad	bronchial
18	chr1:59275800-59280200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:59276000-59279800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:59276000-59280400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:59276000-59280600	Weak transcription	HSMM	muscle
22	chr1:59276200-59280600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:59277000-59280200	Enhancers	Esophagus	oesophagus
24	chr1:59277200-59280200	Enhancers	Lung	lung
25	chr1:59277200-59280600	Enhancers	Pancreas	Pancrea
26	chr1:59277600-59281200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:59277800-59280000	Enhancers	Stomach Mucosa	stomach
28	chr1:59277800-59280800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:59277800-59280800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:59277800-59281000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:59278000-59280000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:59278000-59280200	Enhancers	HUVEC	blood vessel
33	chr1:59278000-59280600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:59278000-59280800	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:59278000-59280800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr1:59278000-59281000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:59278200-59279800	Enhancers	Colonic Mucosa	Colon
38	chr1:59278200-59279800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr1:59278200-59280600	Enhancers	Primary B cells from cord blood	blood
40	chr1:59278200-59280800	Enhancers	Primary T cells from cord blood	blood
41	chr1:59278200-59280800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:59278200-59280800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr1:59278200-59281000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr1:59278200-59281000	Enhancers	Spleen	Spleen
45	chr1:59278400-59280000	Enhancers	Small Intestine	intestine
46	chr1:59278400-59280600	Enhancers	GM12878-XiMat	blood
47	chr1:59278400-59280800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr1:59278600-59280000	Enhancers	Fetal Intestine Large	intestine
49	chr1:59278600-59280200	Enhancers	Placenta	Placenta
50	chr1:59278600-59280400	Enhancers	A549	lung

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