Variant report

Variant	rs73193619
Chromosome Location	chr12:105390310-105390311
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105378452..105381595-chr12:105388431..105392391,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	1.00[ASN][1000 genomes]
rs11112291	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112292	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112293	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112294	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112295	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112315	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112316	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112318	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112333	1.00[ASN][1000 genomes]
rs11112381	1.00[ASN][1000 genomes]
rs11112389	1.00[ASN][1000 genomes]
rs11495192	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829598	1.00[ASN][1000 genomes]
rs12307372	1.00[ASN][1000 genomes]
rs12369202	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369490	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372369	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372454	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	1.00[ASN][1000 genomes]
rs17036595	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036608	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801070	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs55679730	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916348	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284118	1.00[ASN][1000 genomes]
rs56862143	1.00[ASN][1000 genomes]
rs60835294	1.00[ASN][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7138574	1.00[ASN][1000 genomes]
rs7300730	1.00[ASN][1000 genomes]
rs7310860	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	1.00[ASN][1000 genomes]
rs7315964	1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	1.00[ASN][1000 genomes]
rs73179996	1.00[ASN][1000 genomes]
rs73191788	1.00[ASN][1000 genomes]
rs73193611	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73193626	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193630	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193631	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956643	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966109	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975787	1.00[ASN][1000 genomes]
rs7978034	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105381600-105392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:105381600-105392400	Weak transcription	Stomach Mucosa	stomach
3	chr12:105381800-105392400	Weak transcription	Right Atrium	heart
4	chr12:105381800-105392800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:105381800-105392800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:105381800-105393600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:105381800-105398000	Strong transcription	A549	lung
8	chr12:105381800-105407400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:105382000-105390800	Strong transcription	Fetal Muscle Leg	muscle
11	chr12:105382000-105392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:105382000-105394600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:105382000-105397800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:105382000-105401400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:105382000-105401400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:105382200-105392200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:105382200-105392800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:105382200-105395000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:105382200-105395200	Strong transcription	Primary B cells from cord blood	blood
20	chr12:105382200-105395600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr12:105382200-105401400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:105382200-105402000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:105382200-105402000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:105382200-105402000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:105382200-105402600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:105382400-105401200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:105382400-105401400	Strong transcription	Liver	Liver
28	chr12:105382600-105391000	Strong transcription	Fetal Lung	lung
29	chr12:105382600-105397800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:105382800-105390800	Strong transcription	Fetal Thymus	thymus
31	chr12:105382800-105394600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:105382800-105394800	Strong transcription	Primary T cells from cord blood	blood
33	chr12:105382800-105398000	Strong transcription	Adipose Nuclei	Adipose
34	chr12:105383000-105390800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:105383000-105391200	Strong transcription	HMEC	breast
36	chr12:105383000-105402000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:105383200-105390600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:105383200-105391800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:105383200-105392800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr12:105383200-105396400	Strong transcription	Fetal Intestine Large	intestine
41	chr12:105383200-105398000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:105383400-105393200	Strong transcription	Dnd41	blood
43	chr12:105383400-105394200	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr12:105383400-105399000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:105383600-105392600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:105383600-105394800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:105383600-105401600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:105383800-105393800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:105383800-105397800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:105383800-105401200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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