Variant report

Variant	rs73300007
Chromosome Location	chr12:51398245-51398246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:51398202-51398598	HepG2	liver:	n/a	n/a
2	RAD21	chr12:51398200-51398705	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr12:51398124-51398728	MCF-7	breast:	n/a	n/a
4	RAD21	chr12:51398153-51398561	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:51398237-51398508	H1-hESC	embryonic stem cell:	n/a	chr12:51398404-51398422
6	RAD21	chr12:51398217-51398671	MCF-7	breast:	n/a	n/a
7	CTCF	chr12:51398245-51398584	K562	blood:	n/a	chr12:51398404-51398422

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51397137..51401396-chr12:51418750..51422923,7	MCF-7	breast:
2	chr12:51397939..51400659-chr12:51662476..51664122,2	MCF-7	breast:
3	chr12:51396990..51399929-chr12:51402029..51404417,2	K562	blood:
4	chr12:51397706..51399283-chr12:51631640..51634550,2	MCF-7	breast:
5	chr12:51398011..51404686-chr12:51416862..51423754,14	MCF-7	breast:
6	chr12:51397752..51401111-chr12:51474159..51477147,3	MCF-7	breast:
7	chr12:51397539..51404278-chr12:51405080..51409503,9	MCF-7	breast:
8	chr12:51395457..51398981-chr12:51402269..51404576,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLC11A2	TF binding region
ENSG00000110911	Chromatin interaction
ENSG00000272028	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11832162	1.00[AMR][1000 genomes]
rs11832863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834248	1.00[AMR][1000 genomes]
rs11834310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308376	1.00[AMR][1000 genomes]
rs13378041	1.00[AMR][1000 genomes]
rs57268497	1.00[AMR][1000 genomes]
rs59268299	1.00[AMR][1000 genomes]
rs59487164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60167482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60725885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308084	1.00[AMR][1000 genomes]
rs73310015	1.00[AMR][1000 genomes]
rs73310018	1.00[AMR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51378000-51401800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:51378600-51399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:51380200-51401800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:51380200-51402200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr12:51380600-51399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:51381200-51402200	Strong transcription	Fetal Thymus	thymus
7	chr12:51381200-51402200	Weak transcription	Psoas Muscle	Psoas
8	chr12:51381200-51402400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:51381200-51403000	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:51381400-51403000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:51381800-51401600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:51381800-51401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:51381800-51402400	Strong transcription	Liver	Liver
14	chr12:51382000-51402000	Strong transcription	Fetal Stomach	stomach
15	chr12:51382000-51402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:51382400-51399400	Strong transcription	Fetal Intestine Large	intestine
17	chr12:51382600-51399400	Strong transcription	Fetal Intestine Small	intestine
18	chr12:51385600-51402600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:51386000-51406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:51386200-51398800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:51386800-51402200	Weak transcription	Right Atrium	heart
23	chr12:51388000-51401000	Strong transcription	Primary T cells from cord blood	blood
24	chr12:51388200-51402000	Strong transcription	Adipose Nuclei	Adipose
25	chr12:51388600-51406600	Weak transcription	Small Intestine	intestine
26	chr12:51389400-51405400	Weak transcription	Esophagus	oesophagus
27	chr12:51390000-51400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:51390000-51405800	Weak transcription	Stomach Mucosa	stomach
29	chr12:51390800-51398400	Weak transcription	Right Ventricle	heart
30	chr12:51390800-51398600	Weak transcription	Fetal Heart	heart
31	chr12:51390800-51402800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:51391000-51402200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:51391200-51398400	Weak transcription	Spleen	Spleen
34	chr12:51391200-51398600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:51391400-51399600	Weak transcription	Pancreas	Pancrea
36	chr12:51392400-51401800	Strong transcription	Thymus	Thymus
37	chr12:51392600-51402400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:51393000-51402000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr12:51393400-51398400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:51393400-51402000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:51394200-51398400	Weak transcription	Primary B cells from cord blood	blood
42	chr12:51394400-51398400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:51394400-51398400	Weak transcription	Aorta	Aorta
44	chr12:51394400-51398400	Weak transcription	Gastric	stomach
45	chr12:51394400-51402400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:51394400-51403600	Weak transcription	Ovary	ovary
47	chr12:51394600-51398400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:51394600-51398400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:51394600-51398400	Weak transcription	Fetal Kidney	kidney
50	chr12:51394600-51398400	Weak transcription	HMEC	breast

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