Variant report

Variant	rs73141045
Chromosome Location	chr12:62931083-62931084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62929084..62931888-chr12:62931989..62935552,3	MCF-7	breast:
2	chr12:62931071..62933138-chr12:62938483..62940782,2	MCF-7	breast:
3	chr12:62920513..62925358-chr12:62927927..62931461,4	K562	blood:

Variant related genes	Relation type
ENSG00000202034	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10877855	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877856	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877857	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877859	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877862	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877864	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174487	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11174494	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174495	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174496	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174498	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174504	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174514	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174517	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174518	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174527	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174537	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174557	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174568	0.83[EUR][1000 genomes]
rs11174569	0.83[EUR][1000 genomes]
rs11174571	0.83[EUR][1000 genomes]
rs11174575	0.81[EUR][1000 genomes]
rs11174576	0.81[EUR][1000 genomes]
rs11520127	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613132	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11614022	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614822	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367878	0.81[EUR][1000 genomes]
rs12369751	0.81[EUR][1000 genomes]
rs12369961	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12369985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17732089	0.82[EUR][1000 genomes]
rs17732182	0.81[EUR][1000 genomes]
rs7296573	0.81[EUR][1000 genomes]
rs7301016	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302094	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7302456	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7303825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124315	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73126024	0.81[EUR][1000 genomes]
rs73141014	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962519	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975109	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
2	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
3	chr12:62876000-62937400	Weak transcription	Gastric	stomach
4	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
5	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
6	chr12:62903600-62949800	Weak transcription	NHEK	skin
7	chr12:62906400-62943800	Weak transcription	Aorta	Aorta
8	chr12:62906600-62931600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:62907400-62940200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:62911400-62944000	Weak transcription	Spleen	Spleen
12	chr12:62914200-62941200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:62917000-62940600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
16	chr12:62917400-62960000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:62919400-62937200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:62919600-62937200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:62919800-62970000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:62920000-62950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:62924400-62945600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:62924400-62949800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:62924400-62969800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:62924600-62938600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:62924800-62931400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:62924800-62967600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:62925400-62949800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:62925800-62931200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:62925800-62932400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:62925800-62933600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:62926000-62934400	Strong transcription	Dnd41	blood
32	chr12:62926000-62945000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:62926000-62951400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:62926200-62931200	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:62926200-62932400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:62926200-62932400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:62926200-62932400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:62926200-62932600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:62926200-62933000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:62926200-62933400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:62926200-62933400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:62926200-62933800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:62926200-62933800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:62926200-62933800	Strong transcription	Fetal Intestine Large	intestine
45	chr12:62926200-62933800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr12:62926200-62934000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:62926200-62949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:62926200-62951400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:62926200-62951600	Strong transcription	Fetal Thymus	thymus
50	chr12:62926200-62951800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links