Variant report

Variant	rs10785593
Chromosome Location	chr12:46384024-46384025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46381030..46386260-chr12:46762457..46768592,6	K562	blood:
2	chr12:46382717..46386243-chr12:46660668..46665434,7	MCF-7	breast:
3	chr12:46381426..46387093-chr12:46763754..46767064,8	MCF-7	breast:
4	chr12:46383619..46384321-chr17:41438325..41439111,3	Hela-S3	cervix:
5	chr12:46382778..46384347-chr12:46465169..46467151,2	MCF-7	breast:
6	chr12:46382760..46386151-chr12:46661620..46664692,5	K562	blood:
7	chr12:46383228..46385142-chr12:46775120..46777810,2	K562	blood:
8	chr12:46383831..46384593-chr7:148395641..148396409,2	Hela-S3	cervix:
9	chr12:46383642..46385576-chr12:46774824..46777810,2	K562	blood:
10	chr12:46382586..46387481-chr12:46763277..46769922,9	K562	blood:
11	chr12:46117578..46127110-chr12:46379884..46387671,22	K562	blood:
12	chr12:46119117..46128831-chr12:46378175..46388065,20	MCF-7	breast:
13	chr12:46383060..46384877-chr12:46775536..46777599,2	MCF-7	breast:
14	chr10:60145019..60145559-chr12:46383861..46384446,2	NB4	blood:
15	chr12:46382194..46387214-chr12:46392482..46398742,9	MCF-7	breast:
16	chr12:46383804..46386112-chr12:46763445..46766511,3	MCF-7	breast:
17	chr10:5931232..5931977-chr12:46383975..46384769,2	Hela-S3	cervix:
18	chr12:46361472..46363562-chr12:46382349..46384332,2	K562	blood:
19	chr12:46381653..46384316-chr12:46658041..46660330,2	K562	blood:
20	chr12:46383645..46384386-chr5:177019349..177019927,2	Hela-S3	cervix:
21	chr1:16481958..16482703-chr12:46383691..46384540,2	Hela-S3	cervix:
22	chr12:46383676..46384345-chr15:44719231..44719897,2	Hela-S3	cervix:
23	chr12:46383844..46385059-chr6:27100517..27101410,4	Hela-S3	cervix:
24	chr12:46383984..46386304-chr12:46660462..46663011,4	MCF-7	breast:
25	chr12:46381984..46384218-chr12:46387079..46389298,2	K562	blood:
26	chr12:46383422..46386151-chr12:46661938..46664140,2	K562	blood:
27	chr12:46383827..46384348-chr15:52311563..52312211,2	Hela-S3	cervix:
28	chr12:46383917..46384835-chr18:3247640..3248213,2	Hela-S3	cervix:
29	chr12:46121418..46125188-chr12:46383049..46386096,7	MCF-7	breast:
30	chr12:46119690..46125014-chr12:46381902..46386942,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124635	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000101608	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000273015	Chromatin interaction
ENSG00000055130	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000273314	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000108064	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000239397	Chromatin interaction
ENSG00000137770	Chromatin interaction
ENSG00000142627	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000189079	Chromatin interaction
ENSG00000184840	Chromatin interaction
ENSG00000259595	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1012642	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10880871	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10880875	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10880879	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880880	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880887	0.82[AFR][1000 genomes]
rs11183241	0.95[ASN][1000 genomes]
rs11183243	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11183268	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183272	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12826749	0.84[AFR][1000 genomes]
rs1366024	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs247917	0.82[ASN][1000 genomes]
rs247918	0.82[ASN][1000 genomes]
rs247919	0.85[ASN][1000 genomes]
rs247920	0.85[ASN][1000 genomes]
rs247929	0.89[ASN][1000 genomes]
rs35121	0.87[ASN][1000 genomes]
rs35122	0.83[ASN][1000 genomes]
rs35125	0.83[ASN][1000 genomes]
rs724909	0.96[ASN][1000 genomes]
rs7298703	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7306229	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7311198	0.86[AMR][1000 genomes]
rs7315731	0.96[ASN][1000 genomes]
rs7966125	0.80[ASN][1000 genomes]
rs7967208	0.96[ASN][1000 genomes]
rs7970129	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971993	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7976870	0.81[ASN][1000 genomes]
rs997307	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv983463	chr12:46377328-46403983	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46380800-46386400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:46381200-46386200	Active TSS	Right Ventricle	heart
3	chr12:46381200-46386400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:46381200-46387200	Active TSS	GM12878-XiMat	blood
5	chr12:46381400-46384800	Active TSS	Stomach Smooth Muscle	stomach
6	chr12:46381600-46386200	Active TSS	Psoas Muscle	Psoas
7	chr12:46381800-46384600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:46382000-46384600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:46382000-46384800	Active TSS	Fetal Muscle Leg	muscle
10	chr12:46382000-46386200	Active TSS	Aorta	Aorta
11	chr12:46382000-46386400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:46382000-46386400	Active TSS	NHLF	lung
13	chr12:46382200-46384800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:46382200-46386200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:46382200-46386200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:46382200-46386200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:46382200-46386200	Active TSS	NHDF-Ad	bronchial
18	chr12:46382200-46386400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:46382200-46386400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:46382200-46386400	Active TSS	HSMMtube	muscle
21	chr12:46382400-46385400	Active TSS	HMEC	breast
22	chr12:46382400-46385800	Active TSS	Thymus	Thymus
23	chr12:46382400-46386000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:46382400-46386200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:46382400-46386200	Active TSS	HSMM	muscle
26	chr12:46382400-46386400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:46382400-46386400	Active TSS	A549	lung
28	chr12:46382400-46386600	Active TSS	K562	blood
29	chr12:46382600-46384200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr12:46382600-46384800	Active TSS	NH-A	brain
31	chr12:46382800-46385800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:46382800-46386000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr12:46382800-46386200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:46382800-46386200	Active TSS	Fetal Stomach	stomach
35	chr12:46383000-46384400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:46383000-46384600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:46383000-46384600	Active TSS	Primary T cells fromperipheralblood	blood
38	chr12:46383000-46384600	Active TSS	NHEK	skin
39	chr12:46383000-46384800	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr12:46383000-46384800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:46383000-46384800	Active TSS	Fetal Muscle Trunk	muscle
42	chr12:46383000-46384800	Active TSS	HUVEC	blood vessel
43	chr12:46383000-46385200	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr12:46383000-46385400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr12:46383000-46385800	Active TSS	Primary B cells from peripheral blood	blood
46	chr12:46383000-46386000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr12:46383000-46386000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:46383000-46386000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr12:46383000-46386000	Active TSS	Brain Angular Gyrus	brain
50	chr12:46383000-46386000	Active TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links