Variant report

Variant	rs7487150
Chromosome Location	chr12:51175690-51175691
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51155325..51162343-chr12:51172009..51182370,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10506296	0.81[ASN][1000 genomes]
rs10735827	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10747590	0.85[ASN][1000 genomes]
rs10747592	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10747593	0.89[ASN][1000 genomes]
rs10783388	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876082	0.94[ASN][1000 genomes]
rs10876083	0.94[ASN][1000 genomes]
rs10876085	0.94[ASN][1000 genomes]
rs10876088	0.96[ASN][1000 genomes]
rs10876091	0.93[ASN][1000 genomes]
rs1109726	0.81[EUR][1000 genomes]
rs11169551	0.91[ASN][1000 genomes]
rs11169553	0.94[ASN][1000 genomes]
rs11169556	0.96[ASN][1000 genomes]
rs11609941	0.81[EUR][1000 genomes]
rs1521515	0.81[ASN][1000 genomes]
rs1561422	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17124907	0.81[ASN][1000 genomes]
rs1815010	0.84[ASN][1000 genomes]
rs2246840	0.82[ASN][1000 genomes]
rs2554862	0.84[EUR][1000 genomes]
rs2684886	0.81[ASN][1000 genomes]
rs2684890	0.81[ASN][1000 genomes]
rs2684891	0.81[ASN][1000 genomes]
rs2700486	0.82[ASN][1000 genomes]
rs3803181	0.82[ASN][1000 genomes]
rs3825401	0.82[ASN][1000 genomes]
rs4143663	0.82[ASN][1000 genomes]
rs4768862	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768909	0.82[ASN][1000 genomes]
rs4768920	0.96[ASN][1000 genomes]
rs57328764	0.84[ASN][1000 genomes]
rs57602501	0.81[EUR][1000 genomes]
rs57729468	0.86[EUR][1000 genomes]
rs58301497	0.81[ASN][1000 genomes]
rs59284993	0.88[ASN][1000 genomes]
rs61926300	0.84[ASN][1000 genomes]
rs6580766	0.96[ASN][1000 genomes]
rs6580767	0.96[ASN][1000 genomes]
rs6580768	0.96[ASN][1000 genomes]
rs6580769	0.85[EUR][1000 genomes]
rs6580770	0.94[ASN][1000 genomes]
rs66838741	0.85[EUR][1000 genomes]
rs66947035	0.86[EUR][1000 genomes]
rs67218241	0.83[EUR][1000 genomes]
rs67356137	0.86[EUR][1000 genomes]
rs7303202	0.84[ASN][1000 genomes]
rs7304793	0.93[ASN][1000 genomes]
rs7307788	0.87[EUR][1000 genomes]
rs7308872	0.83[ASN][1000 genomes]
rs7958114	0.85[EUR][1000 genomes]
rs7959129	0.92[ASN][1000 genomes]
rs7960015	0.81[EUR][1000 genomes]
rs7964642	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976942	0.85[EUR][1000 genomes]
rs7977064	0.85[EUR][1000 genomes]
rs7978559	0.85[EUR][1000 genomes]
rs7979165	0.82[EUR][1000 genomes]
rs7979474	0.90[ASN][1000 genomes]
rs829112	0.84[EUR][1000 genomes]
rs829114	0.84[EUR][1000 genomes]
rs829115	0.84[EUR][1000 genomes]
rs829125	0.91[ASN][1000 genomes]
rs865489	0.84[EUR][1000 genomes]
rs865490	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497481	chr12:51150734-51185125	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
2	esv3497482	chr12:51151798-51185232	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
3	esv3386327	chr12:51154734-51184232	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
4	nsv899077	chr12:51160612-51188397	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51159000-51180200	Weak transcription	Esophagus	oesophagus
2	chr12:51159200-51179400	Weak transcription	Aorta	Aorta
3	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:51159600-51189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:51159800-51176200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:51159800-51178200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:51159800-51178400	Weak transcription	NHDF-Ad	bronchial
9	chr12:51159800-51180600	Weak transcription	Fetal Lung	lung
10	chr12:51159800-51189600	Weak transcription	Spleen	Spleen
11	chr12:51159800-51190400	Weak transcription	Fetal Kidney	kidney
12	chr12:51159800-51191200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:51160000-51179200	Weak transcription	HSMMtube	muscle
14	chr12:51160000-51179800	Weak transcription	Small Intestine	intestine
15	chr12:51160000-51189800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:51160000-51190800	Weak transcription	Right Ventricle	heart
17	chr12:51160200-51178200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:51160200-51178400	Weak transcription	HMEC	breast
19	chr12:51160200-51179400	Weak transcription	Right Atrium	heart
20	chr12:51160200-51180200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:51160200-51189600	Weak transcription	Pancreas	Pancrea
22	chr12:51160200-51189800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:51160600-51178200	Weak transcription	Psoas Muscle	Psoas
24	chr12:51160800-51189600	Weak transcription	Brain Angular Gyrus	brain
25	chr12:51160800-51190600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:51161000-51178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:51161000-51189800	Weak transcription	Ovary	ovary
28	chr12:51161800-51180400	Weak transcription	Colonic Mucosa	Colon
29	chr12:51162400-51179200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:51162600-51178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:51163000-51178000	Weak transcription	A549	lung
32	chr12:51163000-51178400	Weak transcription	NHEK	skin
33	chr12:51163200-51179800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:51164400-51189600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:51165200-51179200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:51165400-51177000	Weak transcription	Dnd41	blood
37	chr12:51165400-51179800	Weak transcription	Brain Germinal Matrix	brain
38	chr12:51166000-51179200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:51166800-51178200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:51166800-51178200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:51166800-51178400	Weak transcription	Thymus	Thymus
42	chr12:51166800-51179600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:51167000-51178200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:51167000-51180400	Weak transcription	Fetal Brain Female	brain
45	chr12:51167200-51179800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:51167800-51179200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:51168400-51179200	Weak transcription	GM12878-XiMat	blood
48	chr12:51169000-51178200	Genic enhancers	Hela-S3	cervix
49	chr12:51171600-51177800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:51172600-51190600	Weak transcription	Fetal Brain Male	brain

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