Variant report

Variant	rs57459050
Chromosome Location	chr12:120313511-120313512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120313416..120316416-chr17:41464359..41467641,4	K562	blood:
2	chr12:120313415..120316416-chr17:41464359..41467641,4	K562	blood:
3	chr12:120313396..120316395-chr17:41464679..41467181,3	MCF-7	breast:
4	chr12:120306038..120308979-chr12:120311898..120314369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12164852	0.82[AMR][1000 genomes]
rs12303725	0.89[EUR][1000 genomes]
rs12303871	0.94[EUR][1000 genomes]
rs12307282	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12312594	0.91[AMR][1000 genomes]
rs12313808	0.91[AMR][1000 genomes]
rs12316230	0.82[AMR][1000 genomes]
rs12317711	0.82[AMR][1000 genomes]
rs12319537	0.94[EUR][1000 genomes]
rs12319916	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12320276	0.94[EUR][1000 genomes]
rs13313223	0.85[EUR][1000 genomes]
rs55906258	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56233820	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56903823	0.94[EUR][1000 genomes]
rs57243313	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57626094	0.94[EUR][1000 genomes]
rs57908788	0.94[EUR][1000 genomes]
rs58111169	0.94[EUR][1000 genomes]
rs58399872	0.82[AMR][1000 genomes]
rs58893111	0.94[EUR][1000 genomes]
rs59347602	0.89[EUR][1000 genomes]
rs59442639	0.81[EUR][1000 genomes]
rs7304029	0.89[EUR][1000 genomes]
rs73418594	0.85[EUR][1000 genomes]
rs73420604	0.94[EUR][1000 genomes]
rs73420615	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73420618	0.82[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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
5	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:120278400-120313800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:120278600-120313800	Weak transcription	Fetal Brain Female	brain
8	chr12:120279800-120314200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:120279800-120314400	Weak transcription	Primary B cells from cord blood	blood
10	chr12:120286000-120314400	Weak transcription	Placenta	Placenta
11	chr12:120290000-120313800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120293400-120313600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:120293600-120313600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:120294800-120314200	Weak transcription	Primary T cells from cord blood	blood
15	chr12:120295200-120314200	Weak transcription	Fetal Kidney	kidney
16	chr12:120299400-120313600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:120301600-120314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:120301800-120314000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:120302000-120313600	Strong transcription	Fetal Thymus	thymus
20	chr12:120303000-120314400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:120303800-120313600	Strong transcription	K562	blood
22	chr12:120304000-120314000	Weak transcription	Fetal Lung	lung
23	chr12:120305600-120314200	Weak transcription	Fetal Intestine Small	intestine
24	chr12:120305600-120314400	Weak transcription	Fetal Brain Male	brain
25	chr12:120305800-120314400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:120306600-120314400	Weak transcription	Fetal Intestine Large	intestine
27	chr12:120306800-120314000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:120307000-120314000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:120307200-120313800	Weak transcription	GM12878-XiMat	blood
30	chr12:120307200-120314200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:120307400-120314200	Weak transcription	Brain Anterior Caudate	brain
32	chr12:120307600-120313800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:120307600-120314200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:120308000-120314000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:120308000-120314000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:120308000-120314000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:120308000-120314000	Weak transcription	HSMM	muscle
38	chr12:120308200-120313600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:120308200-120313800	Weak transcription	NHLF	lung
40	chr12:120308200-120314200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:120308200-120314200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:120308200-120314400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:120308800-120313600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:120309000-120313600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:120309400-120314000	Weak transcription	NH-A	brain
46	chr12:120309800-120314000	Weak transcription	HMEC	breast
47	chr12:120309800-120314200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:120310200-120313800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:120310600-120313800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:120310600-120313800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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