Variant report

Variant	rs73421719
Chromosome Location	chr12:122715620-122715621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:122715600-122715750	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122709240..122713292-chr12:122715600..122719009,8	K562	blood:
2	chr12:122715428..122718319-chr12:122718788..122721309,2	MCF-7	breast:
3	chr12:122711907..122714126-chr12:122714417..122716211,2	K562	blood:

Variant related genes	Relation type
DIABLO	TF binding region
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1001178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310939	1.00[EUR][1000 genomes]
rs28439749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536732	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579554	1.00[EUR][1000 genomes]
rs55639239	1.00[EUR][1000 genomes]
rs56229172	1.00[EUR][1000 genomes]
rs56276573	1.00[EUR][1000 genomes]
rs58044975	1.00[EUR][1000 genomes]
rs58583917	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58865449	1.00[EUR][1000 genomes]
rs58928984	1.00[EUR][1000 genomes]
rs59638725	1.00[EUR][1000 genomes]
rs60425908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60595657	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60810217	1.00[ASN][1000 genomes]
rs61140498	0.86[EUR][1000 genomes]
rs7134462	1.00[EUR][1000 genomes]
rs7135931	1.00[EUR][1000 genomes]
rs7136074	1.00[EUR][1000 genomes]
rs7294427	1.00[EUR][1000 genomes]
rs7294849	1.00[EUR][1000 genomes]
rs7304287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7305870	1.00[EUR][1000 genomes]
rs7307891	1.00[ASN][1000 genomes]
rs73404008	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404020	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404029	1.00[EUR][1000 genomes]
rs73404037	1.00[EUR][1000 genomes]
rs73404045	1.00[EUR][1000 genomes]
rs73404046	1.00[EUR][1000 genomes]
rs73404065	1.00[EUR][1000 genomes]
rs73405849	1.00[EUR][1000 genomes]
rs73405864	1.00[EUR][1000 genomes]
rs73421714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421716	0.87[AFR][1000 genomes]
rs73421727	1.00[ASN][1000 genomes]
rs73421728	1.00[ASN][1000 genomes]
rs73421737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421739	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421744	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421747	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7484523	0.85[AFR][1000 genomes]
rs7952820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957335	1.00[ASN][1000 genomes]
rs7972230	0.82[AFR][1000 genomes]
rs9971771	1.00[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 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	chr12:122710800-122716600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:122711400-122734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:122711600-122715800	Weak transcription	Fetal Heart	heart
4	chr12:122711600-122718000	Weak transcription	A549	lung
5	chr12:122711600-122720200	Weak transcription	HUVEC	blood vessel
6	chr12:122711600-122721800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:122711800-122715800	Weak transcription	Right Atrium	heart
8	chr12:122711800-122716600	Weak transcription	NHDF-Ad	bronchial
9	chr12:122711800-122718400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:122711800-122719000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:122711800-122720200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:122711800-122720200	Weak transcription	Small Intestine	intestine
13	chr12:122711800-122734400	Weak transcription	Stomach Mucosa	stomach
14	chr12:122711800-122734800	Weak transcription	Fetal Brain Male	brain
15	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
17	chr12:122712000-122730000	Strong transcription	Fetal Intestine Large	intestine
18	chr12:122712200-122719200	Weak transcription	NHLF	lung
19	chr12:122712200-122722000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:122712200-122730800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:122712400-122720600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:122713200-122715800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:122713200-122715800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:122713400-122722000	Strong transcription	Left Ventricle	heart
26	chr12:122713600-122716200	Strong transcription	HSMM	muscle
27	chr12:122713600-122720600	Strong transcription	Primary B cells from cord blood	blood
28	chr12:122713600-122722000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:122713600-122725000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:122713600-122726800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr12:122713800-122719800	Strong transcription	Liver	Liver
32	chr12:122713800-122722000	Strong transcription	Placenta	Placenta
33	chr12:122713800-122722200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:122713800-122726800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:122713800-122727800	Strong transcription	Fetal Thymus	thymus
36	chr12:122713800-122729400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:122713800-122730800	Strong transcription	Adipose Nuclei	Adipose
38	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:122714000-122717800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:122714000-122720200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:122714000-122720600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:122714000-122722000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:122714000-122723800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr12:122714000-122727000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:122714000-122727000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:122714000-122727200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:122714000-122729600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:122714200-122716000	Strong transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links