Variant report

Variant	rs4768923
Chromosome Location	chr12:51194709-51194710
allele	A/C
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: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10459235	0.86[ASN][1000 genomes]
rs10747587	0.80[AMR][1000 genomes]
rs10783384	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10783389	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876080	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876081	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876089	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876090	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876095	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876096	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876097	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169528	0.87[ASN][1000 genomes]
rs11169532	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11169537	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11169538	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169539	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169544	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169552	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169554	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11615933	0.85[ASN][1000 genomes]
rs12424860	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12580479	0.80[ASN][1000 genomes]
rs1344958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35845404	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3742063	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3742064	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3809319	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825402	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4026593	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4307773	0.91[ASN][1000 genomes]
rs4768866	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768906	0.87[ASN][1000 genomes]
rs4768907	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768911	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4768912	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4768913	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4768914	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4768917	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768921	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768922	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768924	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768925	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768940	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73094900	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73096846	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4768923	DIP2B	cis	Thyroid	GTEx

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	chr12:51189800-51194800	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:51189800-51195000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:51189800-51195600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:51190000-51195000	Strong transcription	Osteobl	bone
12	chr12:51190200-51204000	Weak transcription	Gastric	stomach
13	chr12:51190200-51215200	Weak transcription	Pancreas	Pancrea
14	chr12:51190600-51195200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:51190600-51196400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:51190600-51197400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:51190800-51195000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr12:51191400-51196600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr12:51191800-51194800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:51191800-51195600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr12:51192000-51194800	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr12:51192400-51195800	ZNF genes & repeats	A549	lung
23	chr12:51192400-51195800	ZNF genes & repeats	Dnd41	blood
24	chr12:51192600-51194800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:51192600-51195400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:51193200-51196400	Strong transcription	Placenta	Placenta
27	chr12:51193200-51200000	Weak transcription	Thymus	Thymus
28	chr12:51193200-51200000	Weak transcription	Spleen	Spleen
29	chr12:51193200-51203200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:51193200-51204400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:51193200-51207600	Weak transcription	Fetal Heart	heart
32	chr12:51193200-51207800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:51193200-51207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:51193200-51207800	Weak transcription	Esophagus	oesophagus
35	chr12:51193200-51208000	Weak transcription	Small Intestine	intestine
36	chr12:51193200-51211200	Weak transcription	Aorta	Aorta
37	chr12:51193400-51195600	Strong transcription	Liver	Liver
38	chr12:51193400-51203200	Weak transcription	Colonic Mucosa	Colon
39	chr12:51193400-51204000	Weak transcription	Psoas Muscle	Psoas
40	chr12:51193400-51207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:51193600-51194800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:51193600-51195800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr12:51193600-51195800	Strong transcription	Hela-S3	cervix
44	chr12:51193800-51202800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:51193800-51204200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:51193800-51204400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:51193800-51204400	Weak transcription	Fetal Brain Male	brain
48	chr12:51194000-51194800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:51194000-51195000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:51194000-51195000	ZNF genes & repeats	Fetal Intestine Small	intestine

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