Variant report

Variant	rs1523261
Chromosome Location	chr12:122462877-122462878
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122460342-122463264	Raji	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:122230934..122233822-chr12:122459500..122463009,3	MCF-7	breast:
2	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
3	chr12:122325408..122328152-chr12:122461584..122463358,2	K562	blood:
4	chr12:122393562..122396353-chr12:122460972..122463920,2	K562	blood:
5	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
6	chr12:122461383..122462889-chr12:122756023..122758589,2	K562	blood:
7	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
8	chr12:122459539..122463256-chr12:122498402..122502892,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255856	TF binding region
ENSG00000110801	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000256950	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11043276	0.83[ASN][1000 genomes]
rs7954584	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1523261	BCL7A	cis	Muscle Skeletal	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122460800-122463200	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr12:122461600-122466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:122461600-122467200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:122461800-122464800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:122461800-122465800	Weak transcription	Esophagus	oesophagus
7	chr12:122461800-122473200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:122461800-122476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:122462000-122473200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:122462000-122473400	Weak transcription	Primary T cells from cord blood	blood
11	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:122462200-122465800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:122462200-122465800	Weak transcription	Psoas Muscle	Psoas
14	chr12:122462200-122466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:122462200-122466200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:122462200-122466200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:122462200-122466800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:122462200-122469200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:122462200-122469600	Weak transcription	Gastric	stomach
20	chr12:122462200-122472800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:122462200-122473000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:122462200-122473200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:122462200-122473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:122462200-122474200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
26	chr12:122462400-122463000	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:122462400-122463200	Enhancers	Fetal Muscle Trunk	muscle
28	chr12:122462400-122463200	Enhancers	Fetal Muscle Leg	muscle
29	chr12:122462400-122463200	Enhancers	Pancreas	Pancrea
30	chr12:122462400-122463200	Enhancers	Right Ventricle	heart
31	chr12:122462400-122463200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:122462400-122463200	Genic enhancers	Dnd41	blood
33	chr12:122462400-122463200	Enhancers	HMEC	breast
34	chr12:122462400-122463400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:122462400-122464200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:122462400-122464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:122462400-122464400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:122462400-122464600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:122462400-122464800	Weak transcription	Brain Substantia Nigra	brain
40	chr12:122462400-122464800	Weak transcription	Fetal Brain Female	brain
41	chr12:122462400-122465800	Weak transcription	Adipose Nuclei	Adipose
42	chr12:122462400-122465800	Weak transcription	Brain Angular Gyrus	brain
43	chr12:122462400-122465800	Weak transcription	Brain Anterior Caudate	brain
44	chr12:122462400-122465800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:122462400-122465800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:122462400-122465800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:122462400-122466000	Weak transcription	Osteobl	bone
48	chr12:122462400-122466200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:122462400-122466400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:122462400-122466600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links