Variant report

Variant	rs11169700
Chromosome Location	chr12:51485180-51485181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51479655..51481942-chr12:51483772..51485715,3	MCF-7	breast:
2	chr12:51484035..51486422-chr12:51486833..51488800,2	MCF-7	breast:
3	chr12:51475857..51479222-chr12:51481896..51486349,6	K562	blood:
4	chr12:51483401..51485613-chr12:51487391..51490176,3	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10876133	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10876135	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10876137	0.90[ASN][1000 genomes]
rs10876142	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11169681	0.86[AMR][1000 genomes]
rs11169687	0.91[AMR][1000 genomes]
rs11169688	0.91[AMR][1000 genomes]
rs11169696	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11169706	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169708	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169720	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169721	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11169722	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169737	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11169746	0.81[AMR][1000 genomes]
rs11610454	0.81[ASN][1000 genomes]
rs11614806	0.80[ASN][1000 genomes]
rs12227032	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12227973	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12230388	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12312531	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12424460	0.90[ASN][1000 genomes]
rs1493382	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17125363	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17125365	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125371	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2359189	0.90[ASN][1000 genomes]
rs2436636	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2452794	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2452795	0.86[ASN][1000 genomes]
rs2452796	0.86[ASN][1000 genomes]
rs2640512	0.86[ASN][1000 genomes]
rs2640515	0.86[ASN][1000 genomes]
rs2640518	0.86[ASN][1000 genomes]
rs2640520	0.87[ASN][1000 genomes]
rs2640522	0.87[ASN][1000 genomes]
rs2640525	0.87[ASN][1000 genomes]
rs2640526	0.82[ASN][1000 genomes]
rs2640528	0.86[ASN][1000 genomes]
rs2730651	0.82[ASN][1000 genomes]
rs2730653	0.87[ASN][1000 genomes]
rs2730657	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2730659	0.86[ASN][1000 genomes]
rs2934092	0.81[ASN][1000 genomes]
rs2956427	0.86[ASN][1000 genomes]
rs2956433	0.80[ASN][1000 genomes]
rs4768953	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4768957	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768971	0.86[ASN][1000 genomes]
rs4768974	0.87[ASN][1000 genomes]
rs56729853	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60203224	0.84[AMR][1000 genomes]
rs7309374	0.86[ASN][1000 genomes]
rs7399208	0.81[AMR][1000 genomes]
rs7399214	0.87[ASN][1000 genomes]
rs7953765	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7980076	0.82[ASN][1000 genomes]
rs8490	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][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	chr12:51477400-51488200	Weak transcription	Spleen	Spleen
2	chr12:51477400-51488800	Weak transcription	Gastric	stomach
3	chr12:51477400-51490000	Weak transcription	Small Intestine	intestine
4	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:51477600-51487800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:51477800-51485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:51477800-51485400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:51477800-51485800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:51477800-51485800	Weak transcription	A549	lung
10	chr12:51477800-51486000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:51477800-51486000	Weak transcription	Lung	lung
12	chr12:51477800-51486800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:51477800-51487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:51477800-51487000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:51477800-51487000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:51477800-51487000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:51477800-51487200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:51477800-51487200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:51477800-51487400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:51477800-51487400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:51477800-51487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:51477800-51487400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:51477800-51487400	Weak transcription	HMEC	breast
24	chr12:51477800-51487600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:51477800-51487600	Weak transcription	Primary T cells from cord blood	blood
26	chr12:51477800-51487600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:51477800-51487600	Weak transcription	Brain Substantia Nigra	brain
28	chr12:51477800-51487600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:51477800-51487800	Weak transcription	Liver	Liver
30	chr12:51477800-51487800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:51477800-51487800	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:51477800-51487800	Weak transcription	Left Ventricle	heart
33	chr12:51477800-51487800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:51477800-51487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:51477800-51487800	Weak transcription	Hela-S3	cervix
36	chr12:51477800-51487800	Weak transcription	NH-A	brain
37	chr12:51477800-51487800	Weak transcription	NHDF-Ad	bronchial
38	chr12:51477800-51488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:51477800-51488000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:51477800-51488000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:51477800-51488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:51477800-51488000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:51477800-51488000	Weak transcription	Brain Angular Gyrus	brain
44	chr12:51477800-51488000	Weak transcription	Fetal Heart	heart
45	chr12:51477800-51488000	Weak transcription	Fetal Kidney	kidney
46	chr12:51477800-51488000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:51477800-51488000	Weak transcription	Thymus	Thymus
48	chr12:51477800-51488000	Weak transcription	HUVEC	blood vessel
49	chr12:51477800-51488000	Weak transcription	NHEK	skin
50	chr12:51477800-51488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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