Variant report

Variant	rs73383489
Chromosome Location	chr12:105382668-105382669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105349646..105353787-chr12:105376379..105382982,10	MCF-7	breast:
2	chr12:105349138..105353350-chr12:105380237..105383582,4	MCF-7	breast:
3	chr12:105379993..105381811-chr12:105382055..105386132,5	K562	blood:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11112268	0.85[AFR][1000 genomes]
rs11112269	0.85[AFR][1000 genomes]
rs12230563	0.85[AFR][1000 genomes]
rs17036468	1.00[EUR][1000 genomes]
rs4130161	0.82[AFR][1000 genomes]
rs7295691	1.00[EUR][1000 genomes]
rs7301851	1.00[EUR][1000 genomes]
rs73399910	1.00[EUR][1000 genomes]
rs7965580	1.00[EUR][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	chr12:105380800-105383200	Weak transcription	Left Ventricle	heart
2	chr12:105380800-105383800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:105380800-105386000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:105380800-105386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:105380800-105386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:105380800-105386400	Weak transcription	Esophagus	oesophagus
7	chr12:105381000-105384000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:105381000-105386000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:105381000-105386800	Weak transcription	Psoas Muscle	Psoas
10	chr12:105381000-105388600	Weak transcription	Right Ventricle	heart
11	chr12:105381200-105383200	Weak transcription	Fetal Intestine Large	intestine
12	chr12:105381200-105384800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:105381400-105382800	Weak transcription	Fetal Thymus	thymus
14	chr12:105381400-105383000	Weak transcription	Fetal Kidney	kidney
15	chr12:105381400-105385000	Weak transcription	Fetal Heart	heart
16	chr12:105381400-105385600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:105381400-105385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:105381400-105386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:105381600-105383000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:105381600-105383000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:105381600-105383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:105381600-105383400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:105381600-105383800	Enhancers	HepG2	liver
24	chr12:105381600-105384200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:105381600-105384200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:105381600-105384600	Weak transcription	Fetal Stomach	stomach
27	chr12:105381600-105384800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:105381600-105384800	Weak transcription	Brain Anterior Caudate	brain
29	chr12:105381600-105385000	Weak transcription	Placenta	Placenta
30	chr12:105381600-105385400	Weak transcription	NHDF-Ad	bronchial
31	chr12:105381600-105385800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:105381600-105385800	Weak transcription	NHLF	lung
33	chr12:105381600-105386000	Weak transcription	Colonic Mucosa	Colon
34	chr12:105381600-105386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:105381600-105386400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:105381600-105387000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:105381600-105388600	Weak transcription	Spleen	Spleen
38	chr12:105381600-105392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:105381600-105392400	Weak transcription	Stomach Mucosa	stomach
40	chr12:105381800-105382800	Weak transcription	Primary T cells from cord blood	blood
41	chr12:105381800-105383000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:105381800-105383200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:105381800-105383800	Weak transcription	Osteobl	bone
44	chr12:105381800-105384400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:105381800-105384600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:105381800-105384600	Weak transcription	Pancreas	Pancrea
47	chr12:105381800-105384800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:105381800-105384800	Weak transcription	Brain Substantia Nigra	brain
49	chr12:105381800-105384800	Weak transcription	Fetal Intestine Small	intestine
50	chr12:105381800-105385200	Weak transcription	Brain Hippocampus Middle	brain

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