Variant report

Variant	rs1060735
Chromosome Location	chr12:46661387-46661388
allele	A/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46658442..46662665-chr12:46774451..46778723,6	K562	blood:
2	chr12:46122734..46124564-chr12:46660289..46662102,2	K562	blood:
3	chr12:46660759..46663753-chr14:102552311..102554625,2	MCF-7	breast:
4	chr12:46660954..46663874-chr12:46776559..46778841,4	MCF-7	breast:
5	chr11:67888702..67889469-chr12:46661053..46661870,2	Hela-S3	cervix:
6	chr12:46590494..46598595-chr12:46658954..46664180,10	MCF-7	breast:
7	chr12:46656458..46664971-chr12:46763618..46767965,19	MCF-7	breast:
8	chr12:46659532..46664131-chr12:46762494..46766775,7	K562	blood:
9	chr12:46652597..46666608-chr12:46757245..46767985,36	MCF-7	breast:
10	chr12:46660942..46665525-chr12:46775819..46780739,12	MCF-7	breast:
11	chr12:46382717..46386243-chr12:46660668..46665434,7	MCF-7	breast:
12	chr12:46658898..46664029-chr12:46756711..46760586,4	K562	blood:
13	chr12:46383984..46386304-chr12:46660462..46663011,4	MCF-7	breast:
14	chr12:46660616..46664726-chr12:46759249..46761419,3	MCF-7	breast:
15	chr12:46658047..46664131-chr12:46762494..46767686,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000189079	Chromatin interaction
ENSG00000139218	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000080824	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10880947	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183420	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11504511	0.84[EUR][1000 genomes]
rs12298619	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302984	0.85[EUR][1000 genomes]
rs12303214	0.80[CEU][hapmap]
rs12310125	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs12580583	0.85[EUR][1000 genomes]
rs12816358	0.93[CHB][hapmap];1.00[YRI][hapmap]
rs1492892	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2018424	0.85[EUR][1000 genomes]
rs2045556	0.83[AMR][1000 genomes]
rs2087834	0.84[EUR][1000 genomes]
rs2172398	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs2242355	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2279560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408496	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2897968	0.87[YRI][hapmap]
rs35123676	0.85[EUR][1000 genomes]
rs35497251	0.85[EUR][1000 genomes]
rs4768110	0.81[EUR][1000 genomes]
rs4768111	0.85[EUR][1000 genomes]
rs4768113	0.82[EUR][1000 genomes]
rs4768694	0.85[EUR][1000 genomes]
rs4768696	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs59919892	0.86[EUR][1000 genomes]
rs6582625	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7134855	0.85[EUR][1000 genomes]
rs7310869	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs7314069	0.85[EUR][1000 genomes]
rs7315493	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7316127	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316773	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs7953659	0.85[EUR][1000 genomes]
rs7960147	0.86[CHB][hapmap];1.00[YRI][hapmap]
rs7965629	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966288	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967669	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs7968173	0.86[CHB][hapmap];0.87[YRI][hapmap]
rs7968283	0.86[CHB][hapmap]
rs7970911	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7976362	0.85[EUR][1000 genomes]
rs7979418	0.85[YRI][hapmap]
rs7980775	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 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	chr12:46658000-46662600	Active TSS	Right Ventricle	heart
2	chr12:46658800-46664200	Active TSS	Placenta Amnion	Placenta Amnion
3	chr12:46659000-46663400	Active TSS	Left Ventricle	heart
4	chr12:46659400-46664200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:46659400-46664200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:46659600-46661600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:46659600-46661800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:46659600-46661800	Active TSS	Brain Cingulate Gyrus	brain
9	chr12:46659600-46664000	Active TSS	Brain Angular Gyrus	brain
10	chr12:46659800-46663600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:46659800-46663600	Active TSS	Brain Hippocampus Middle	brain
12	chr12:46659800-46663600	Active TSS	Psoas Muscle	Psoas
13	chr12:46659800-46663600	Active TSS	HSMM	muscle
14	chr12:46659800-46664000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:46659800-46664200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr12:46659800-46664200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:46659800-46664200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:46660000-46661400	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr12:46660000-46661800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr12:46660000-46662800	Active TSS	Fetal Brain Male	brain
21	chr12:46660000-46662800	Active TSS	Stomach Smooth Muscle	stomach
22	chr12:46660000-46663000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:46660000-46663400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:46660000-46663400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr12:46660000-46663400	Active TSS	Fetal Heart	heart
26	chr12:46660000-46663600	Active TSS	Primary T cells fromperipheralblood	blood
27	chr12:46660000-46663600	Active TSS	HSMMtube	muscle
28	chr12:46660000-46663800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:46660000-46663800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr12:46660000-46664000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr12:46660000-46664000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:46660000-46664000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:46660000-46664000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:46660000-46664000	Active TSS	GM12878-XiMat	blood
35	chr12:46660000-46664200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr12:46660000-46664200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:46660200-46661400	Active TSS	Fetal Brain Female	brain
38	chr12:46660200-46662200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:46660200-46662400	Active TSS	Right Atrium	heart
40	chr12:46660200-46662600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:46660200-46663800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:46660200-46663800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:46660200-46663800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:46660200-46663800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:46660200-46664000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr12:46660200-46664000	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr12:46660200-46664000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr12:46660200-46664200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:46660200-46664200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:46660400-46661600	Flanking Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links