Variant report

Variant	rs7977064
Chromosome Location	chr12:51194864-51194865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51194188..51196779-chr12:51231539..51234008,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10735827	0.87[EUR][1000 genomes]
rs10747586	1.00[ASN][1000 genomes]
rs10747592	0.87[EUR][1000 genomes]
rs10783377	1.00[ASN][1000 genomes]
rs10783380	1.00[ASN][1000 genomes]
rs10783388	0.87[EUR][1000 genomes]
rs1109726	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609941	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561422	0.88[EUR][1000 genomes]
rs2250751	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2250752	1.00[ASN][1000 genomes]
rs2251024	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2251603	1.00[ASN][1000 genomes]
rs2252589	1.00[ASN][1000 genomes]
rs2554862	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684889	1.00[ASN][1000 genomes]
rs2684898	1.00[ASN][1000 genomes]
rs2684900	1.00[ASN][1000 genomes]
rs2684901	1.00[ASN][1000 genomes]
rs2700479	1.00[ASN][1000 genomes]
rs2700480	1.00[ASN][1000 genomes]
rs2700482	1.00[ASN][1000 genomes]
rs2700485	1.00[ASN][1000 genomes]
rs2731434	1.00[ASN][1000 genomes]
rs2731439	1.00[ASN][1000 genomes]
rs2731440	1.00[ASN][1000 genomes]
rs2731442	1.00[ASN][1000 genomes]
rs2731443	1.00[ASN][1000 genomes]
rs4768862	0.85[EUR][1000 genomes]
rs56089074	1.00[ASN][1000 genomes]
rs57602501	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729468	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580769	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66838741	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66947035	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67218241	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67356137	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67934435	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135837	1.00[ASN][1000 genomes]
rs7305655	1.00[ASN][1000 genomes]
rs7307788	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487150	0.85[EUR][1000 genomes]
rs7958114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7960015	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964642	0.87[EUR][1000 genomes]
rs7968440	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7976942	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977690	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7977742	0.81[AMR][1000 genomes]
rs7978559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979165	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829112	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829114	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829115	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865489	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51180800-51204400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:51188600-51207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51189000-51195600	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:51189200-51195400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:51189600-51195800	ZNF genes & repeats	GM12878-XiMat	blood
6	chr12:51189600-51196400	Strong transcription	HSMM	muscle
7	chr12:51189600-51199800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:51189800-51195000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:51189800-51195600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:51190000-51195000	Strong transcription	Osteobl	bone
11	chr12:51190200-51204000	Weak transcription	Gastric	stomach
12	chr12:51190200-51215200	Weak transcription	Pancreas	Pancrea
13	chr12:51190600-51195200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:51190600-51196400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:51190600-51197400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:51190800-51195000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr12:51191400-51196600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
18	chr12:51191800-51195600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr12:51192400-51195800	ZNF genes & repeats	A549	lung
20	chr12:51192400-51195800	ZNF genes & repeats	Dnd41	blood
21	chr12:51192600-51195400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:51193200-51196400	Strong transcription	Placenta	Placenta
23	chr12:51193200-51200000	Weak transcription	Thymus	Thymus
24	chr12:51193200-51200000	Weak transcription	Spleen	Spleen
25	chr12:51193200-51203200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:51193200-51204400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:51193200-51207600	Weak transcription	Fetal Heart	heart
28	chr12:51193200-51207800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:51193200-51207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:51193200-51207800	Weak transcription	Esophagus	oesophagus
31	chr12:51193200-51208000	Weak transcription	Small Intestine	intestine
32	chr12:51193200-51211200	Weak transcription	Aorta	Aorta
33	chr12:51193400-51195600	Strong transcription	Liver	Liver
34	chr12:51193400-51203200	Weak transcription	Colonic Mucosa	Colon
35	chr12:51193400-51204000	Weak transcription	Psoas Muscle	Psoas
36	chr12:51193400-51207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:51193600-51195800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:51193600-51195800	Strong transcription	Hela-S3	cervix
39	chr12:51193800-51202800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:51193800-51204200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:51193800-51204400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:51193800-51204400	Weak transcription	Fetal Brain Male	brain
43	chr12:51194000-51195000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:51194000-51195000	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr12:51194000-51195800	Strong transcription	HepG2	liver
46	chr12:51194000-51200000	Weak transcription	Brain Anterior Caudate	brain
47	chr12:51194000-51200000	Weak transcription	K562	blood
48	chr12:51194000-51203200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:51194000-51203400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:51194000-51203400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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