Variant report

Variant	rs7127456
Chromosome Location	chr11:45832295-45832296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr11:45832044-45832567	HEK293-T-REx	kidney:	n/a	chr11:45832291-45832312 chr11:45832264-45832285
2	POLR2A	chr11:45831396-45832311	K562	blood:	n/a	n/a
3	POLR2A	chr11:45832124-45832478	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45829927..45832919-chr11:45833481..45836427,3	K562	blood:
2	chr11:45832189..45833929-chr11:45868035..45870622,2	K562	blood:

Variant related genes	Relation type
ENSG00000255447	TF binding region
ENSG00000121671	Chromatin interaction
ENSG00000255447	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10838518	1.00[ASN][1000 genomes]
rs16938376	0.91[ASN][1000 genomes]
rs60935266	0.94[ASN][1000 genomes]
rs73466394	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45827800-45832400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:45828000-45832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:45828000-45832400	Genic enhancers	Lung	lung
4	chr11:45828000-45833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:45828000-45834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:45828000-45837200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:45828000-45837200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:45828200-45833000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:45828400-45833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:45828600-45832400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:45828600-45834000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:45828800-45832400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:45829200-45832400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:45829200-45833000	Strong transcription	A549	lung
15	chr11:45829200-45835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:45829400-45833000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:45829400-45833600	Weak transcription	NHDF-Ad	bronchial
18	chr11:45829600-45832400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:45829600-45832400	Genic enhancers	Liver	Liver
20	chr11:45829600-45832400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:45829600-45832400	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:45829600-45832400	Weak transcription	Psoas Muscle	Psoas
23	chr11:45829600-45832600	Weak transcription	Brain Angular Gyrus	brain
24	chr11:45829600-45832800	Weak transcription	HSMMtube	muscle
25	chr11:45829600-45833400	Genic enhancers	Adipose Nuclei	Adipose
26	chr11:45829600-45834000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:45829600-45834400	Strong transcription	Esophagus	oesophagus
28	chr11:45829600-45834400	Strong transcription	NHLF	lung
29	chr11:45829600-45834800	Strong transcription	Primary T cells from cord blood	blood
30	chr11:45829600-45834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:45829600-45834800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:45829600-45835000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:45829600-45835200	Strong transcription	Fetal Stomach	stomach
34	chr11:45829600-45835800	Weak transcription	HSMM	muscle
35	chr11:45829600-45836000	Weak transcription	HepG2	liver
36	chr11:45829800-45832400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:45829800-45833600	Strong transcription	Right Ventricle	heart
38	chr11:45829800-45833600	Weak transcription	Stomach Mucosa	stomach
39	chr11:45829800-45834400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:45829800-45834600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:45829800-45835400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:45830000-45834400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:45830000-45834400	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr11:45830000-45834600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:45830000-45834600	Weak transcription	Small Intestine	intestine
46	chr11:45830200-45832400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:45830200-45834000	Strong transcription	Fetal Intestine Large	intestine
48	chr11:45830200-45834400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:45830200-45834800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:45830200-45835000	Strong transcription	Fetal Intestine Small	intestine

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