Variant report

Variant	rs73297974
Chromosome Location	chr12:51381236-51381237
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51158682..51159758-chr12:51380494..51381376,3	MCF-7	breast:
2	chr12:51376070..51378272-chr12:51379860..51382156,2	K562	blood:
3	chr1:45186306..45187938-chr12:51380260..51382536,2	K562	blood:
4	chr12:51218890..51219846-chr12:51380451..51381461,7	MCF-7	breast:
5	chr12:51216774..51221510-chr12:51379576..51384198,5	MCF-7	breast:
6	chr12:51219126..51219822-chr12:51379841..51381362,5	MCF-7	breast:
7	chr12:51380580..51381458-chr12:51421801..51422741,4	MCF-7	breast:
8	chr12:51379929..51381852-chr12:51418344..51422103,3	K562	blood:
9	chr12:51380893..51382499-chr12:51420081..51422921,2	MCF-7	breast:
10	chr12:51203453..51205584-chr12:51379862..51382375,2	MCF-7	breast:
11	chr12:51380171..51382082-chr12:51385572..51387407,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction
ENSG00000110911	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]
rs73300007	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:51331800-51382000	Weak transcription	Ovary	ovary
3	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
4	chr12:51344000-51382000	Weak transcription	Esophagus	oesophagus
5	chr12:51344600-51381600	Weak transcription	Spleen	Spleen
6	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:51360200-51381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:51360600-51381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:51361600-51382200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:51362400-51382000	Weak transcription	Lung	lung
11	chr12:51362800-51384400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:51363400-51384000	Weak transcription	Colonic Mucosa	Colon
13	chr12:51364600-51384400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:51366800-51382000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:51367000-51382000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:51367200-51382000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:51367200-51382000	Weak transcription	Fetal Stomach	stomach
18	chr12:51367200-51382200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:51367400-51381800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:51372200-51384600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:51373400-51383400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:51374000-51381400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:51374200-51382000	Weak transcription	Pancreas	Pancrea
24	chr12:51375400-51381800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:51375600-51381800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:51376000-51384000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:51377800-51382000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:51378000-51386800	Strong transcription	A549	lung
29	chr12:51378000-51401800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:51378400-51381400	Enhancers	Liver	Liver
31	chr12:51378400-51391200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:51378600-51382000	Weak transcription	Thymus	Thymus
33	chr12:51378600-51393200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:51378600-51399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:51378800-51382000	Weak transcription	Right Ventricle	heart
36	chr12:51378800-51384000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:51378800-51384400	Weak transcription	Aorta	Aorta
38	chr12:51378800-51396000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:51379000-51382000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:51379400-51382600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:51379400-51383400	Weak transcription	Small Intestine	intestine
42	chr12:51379400-51396000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:51379400-51396200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:51379600-51381800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:51379600-51381800	Weak transcription	HSMM	muscle
46	chr12:51379600-51383400	Weak transcription	HMEC	breast
47	chr12:51379600-51383600	Weak transcription	NHLF	lung
48	chr12:51379600-51384000	Weak transcription	NH-A	brain
49	chr12:51379600-51384600	Weak transcription	Stomach Mucosa	stomach
50	chr12:51379600-51385200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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