Variant report

Variant	rs11837720
Chromosome Location	chr12:51383599-51383600
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51381778..51384453-chr12:51414411..51415934,2	MCF-7	breast:
2	chr12:51383022..51385187-chr12:51389944..51392124,2	MCF-7	breast:
3	chr12:51216774..51221510-chr12:51379576..51384198,5	MCF-7	breast:
4	chr12:51156134..51159042-chr12:51381885..51384053,2	MCF-7	breast:
5	chr12:51381999..51383728-chr12:51415428..51417446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836332	1.00[YRI][hapmap];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]
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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:51362800-51384400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:51363400-51384000	Weak transcription	Colonic Mucosa	Colon
4	chr12:51364600-51384400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:51372200-51384600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51376000-51384000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:51378000-51386800	Strong transcription	A549	lung
8	chr12:51378000-51401800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:51378400-51391200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:51378600-51393200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:51378600-51399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:51378800-51384000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:51378800-51384400	Weak transcription	Aorta	Aorta
14	chr12:51378800-51396000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:51379400-51396000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:51379400-51396200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:51379600-51383600	Weak transcription	NHLF	lung
18	chr12:51379600-51384000	Weak transcription	NH-A	brain
19	chr12:51379600-51384600	Weak transcription	Stomach Mucosa	stomach
20	chr12:51379600-51385200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:51379600-51389200	Weak transcription	Fetal Heart	heart
22	chr12:51379600-51395600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:51379800-51384400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:51379800-51386800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:51379800-51391000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:51379800-51394600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:51379800-51396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:51380000-51387200	Strong transcription	Hela-S3	cervix
29	chr12:51380000-51396200	Strong transcription	Dnd41	blood
30	chr12:51380200-51387200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:51380200-51391400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:51380200-51396400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:51380200-51396600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:51380200-51401800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr12:51380200-51402200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:51380400-51386200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr12:51380400-51386800	Strong transcription	Fetal Kidney	kidney
38	chr12:51380400-51386800	Strong transcription	K562	blood
39	chr12:51380400-51387200	Strong transcription	Primary T cells from cord blood	blood
40	chr12:51380400-51391400	Strong transcription	Brain Germinal Matrix	brain
41	chr12:51380400-51396200	Strong transcription	Fetal Brain Female	brain
42	chr12:51380400-51396200	Strong transcription	Placenta	Placenta
43	chr12:51380600-51390800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:51380600-51399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:51380800-51386400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:51380800-51386400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:51380800-51386600	Strong transcription	Brain Substantia Nigra	brain
48	chr12:51380800-51391600	Strong transcription	Left Ventricle	heart
49	chr12:51381000-51384000	Strong transcription	GM12878-XiMat	blood
50	chr12:51381000-51386200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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