Variant report

Variant	rs526940
Chromosome Location	chr12:121142042-121142043
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121140803..121142860-chr12:121453147..121455600,2	K562	blood:
2	chr12:121141631..121144439-chr12:121150820..121152579,2	K562	blood:
3	chr12:121128598..121131378-chr12:121142040..121143642,2	K562	blood:
4	chr12:121123988..121126780-chr12:121141570..121144245,2	MCF-7	breast:
5	chr12:121141492..121143591-chr12:121143799..121145333,2	K562	blood:
6	chr12:121142033..121143665-chr12:121146826..121149794,3	K562	blood:
7	chr12:121123987..121128994-chr12:121141779..121145101,4	MCF-7	breast:
8	chr12:121141474..121145646-chr12:121146933..121152320,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157895	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs514108	1.00[ASN][1000 genomes]
rs529584	0.81[EUR][1000 genomes]
rs7304812	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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121127600-121147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121130200-121143000	Strong transcription	Dnd41	blood
3	chr12:121130200-121143400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:121130600-121142400	Strong transcription	GM12878-XiMat	blood
5	chr12:121130600-121143200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:121130800-121142200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:121130800-121143600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:121131000-121142400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:121131200-121143800	Strong transcription	Fetal Thymus	thymus
10	chr12:121131400-121142200	Strong transcription	Primary T cells from cord blood	blood
11	chr12:121132200-121143600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:121132400-121143000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:121132600-121143600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:121133200-121142200	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr12:121135400-121147400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:121135600-121146400	Strong transcription	Fetal Intestine Small	intestine
17	chr12:121135600-121147400	Weak transcription	Fetal Brain Male	brain
18	chr12:121136000-121147600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:121136200-121147400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:121136400-121147400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:121136400-121147600	Weak transcription	Stomach Mucosa	stomach
22	chr12:121136600-121147800	Weak transcription	NHDF-Ad	bronchial
23	chr12:121137200-121143600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:121137600-121143800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:121138200-121143600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:121138200-121143800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:121138200-121147600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:121138200-121147600	Weak transcription	Hela-S3	cervix
29	chr12:121138400-121147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:121138400-121147600	Weak transcription	NH-A	brain
31	chr12:121138800-121147800	Weak transcription	Small Intestine	intestine
32	chr12:121139000-121147400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:121139200-121147400	Weak transcription	Fetal Kidney	kidney
34	chr12:121139400-121147800	Weak transcription	Esophagus	oesophagus
35	chr12:121139400-121147800	Weak transcription	Psoas Muscle	Psoas
36	chr12:121139600-121142400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:121139600-121147400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:121139800-121147600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:121140000-121147000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:121140000-121147400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:121140000-121147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:121140000-121147400	Weak transcription	Brain Substantia Nigra	brain
43	chr12:121140000-121147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:121140200-121147400	Weak transcription	Brain Anterior Caudate	brain
45	chr12:121140200-121147400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:121140200-121147400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:121140200-121147400	Weak transcription	K562	blood
48	chr12:121140200-121147600	Weak transcription	HMEC	breast
49	chr12:121140200-121147800	Weak transcription	HUVEC	blood vessel
50	chr12:121140400-121147600	Weak transcription	H9 Cell Line	embryonic stem cell

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