Variant report

Variant	rs12310743
Chromosome Location	chr12:48445232-48445233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48393217..48395308-chr12:48444642..48446730,2	MCF-7	breast:
2	chr12:48440309..48443140-chr12:48444434..48446613,2	K562	blood:
3	chr12:48444558..48446136-chr12:48448066..48450776,2	K562	blood:

Variant related genes	Relation type
ENSG00000240399	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10161320	1.00[AMR][1000 genomes]
rs11168384	1.00[AMR][1000 genomes]
rs11168385	1.00[AMR][1000 genomes]
rs11168405	1.00[AMR][1000 genomes]
rs11168457	1.00[AMR][1000 genomes]
rs11574030	1.00[AMR][1000 genomes]
rs12303042	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303151	1.00[AMR][1000 genomes]
rs12303317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303908	1.00[AMR][1000 genomes]
rs12304251	1.00[AMR][1000 genomes]
rs12306869	1.00[AMR][1000 genomes]
rs12321931	1.00[AMR][1000 genomes]
rs12322803	1.00[AMR][1000 genomes]
rs56312890	1.00[AFR][1000 genomes]
rs73301128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301196	0.88[AFR][1000 genomes]
rs7358642	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48431800-48456600	Weak transcription	NHLF	lung
2	chr12:48432000-48463400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:48435200-48445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:48435200-48476200	Weak transcription	Stomach Mucosa	stomach
6	chr12:48435400-48457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:48435600-48445800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:48435800-48445800	Strong transcription	Primary B cells from cord blood	blood
9	chr12:48435800-48452400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:48436000-48445800	Strong transcription	Fetal Thymus	thymus
11	chr12:48436000-48448200	Strong transcription	Primary T cells from cord blood	blood
12	chr12:48436200-48445800	Strong transcription	Dnd41	blood
13	chr12:48436600-48445800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:48437000-48445400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:48437800-48446000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:48439200-48448200	Weak transcription	HSMMtube	muscle
18	chr12:48439200-48448800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:48439200-48448800	Weak transcription	Pancreas	Pancrea
20	chr12:48439200-48453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:48439200-48456800	Weak transcription	HMEC	breast
22	chr12:48439200-48468000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:48439600-48455400	Weak transcription	Colonic Mucosa	Colon
24	chr12:48440000-48452200	Weak transcription	NHDF-Ad	bronchial
25	chr12:48440000-48454000	Weak transcription	HUVEC	blood vessel
26	chr12:48440000-48457200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:48440200-48452600	Weak transcription	Brain Germinal Matrix	brain
28	chr12:48440200-48452600	Weak transcription	Right Ventricle	heart
29	chr12:48440200-48453800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:48440400-48453400	Weak transcription	Esophagus	oesophagus
31	chr12:48440800-48452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:48440800-48452400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:48441000-48448800	Weak transcription	Aorta	Aorta
34	chr12:48441000-48452600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:48441200-48448800	Weak transcription	Fetal Stomach	stomach
36	chr12:48441200-48452400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:48441200-48457000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:48441400-48452400	Weak transcription	Brain Anterior Caudate	brain
39	chr12:48441400-48453400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:48441400-48453400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:48441400-48454400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:48441400-48482600	Weak transcription	Small Intestine	intestine
43	chr12:48441600-48448800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:48441600-48452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:48441600-48452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:48441600-48452400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:48441600-48452800	Weak transcription	NHEK	skin
48	chr12:48441600-48468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:48441800-48448800	Weak transcription	Osteobl	bone
50	chr12:48442000-48445800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links