Variant report

Variant	rs7121406
Chromosome Location	chr11:47553760-47553761
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47543706..47547000-chr11:47553093..47555540,3	K562	blood:
2	chr11:47553390..47555536-chr11:47600207..47602219,2	K562	blood:
3	chr11:47553494..47556204-chr11:47558570..47560706,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123444	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10160313	0.83[AFR][1000 genomes]
rs1040199	0.83[AFR][1000 genomes]
rs10769273	0.83[AFR][1000 genomes]
rs2233358	0.83[AFR][1000 genomes]
rs35920762	0.83[AFR][1000 genomes]
rs6485757	0.83[AFR][1000 genomes]
rs7116487	0.83[AFR][1000 genomes]
rs7118918	0.83[AFR][1000 genomes]
rs7932169	0.83[AFR][1000 genomes]
rs7933674	0.83[AFR][1000 genomes]
rs7940413	0.83[AFR][1000 genomes]
rs9666418	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs967829	0.83[AFR][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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47546000-47572400	Weak transcription	Fetal Intestine Large	intestine
2	chr11:47546200-47560400	Weak transcription	Esophagus	oesophagus
3	chr11:47546400-47553800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:47546400-47554000	Weak transcription	Aorta	Aorta
5	chr11:47546400-47554000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:47546400-47554200	Weak transcription	Gastric	stomach
7	chr11:47546400-47558000	Weak transcription	Fetal Lung	lung
8	chr11:47546400-47560400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:47546400-47560800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:47546400-47561200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:47546400-47564200	Weak transcription	Thymus	Thymus
12	chr11:47546400-47573400	Weak transcription	Colonic Mucosa	Colon
13	chr11:47546400-47573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47546600-47561000	Weak transcription	Stomach Mucosa	stomach
15	chr11:47546800-47554000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:47546800-47559000	Strong transcription	Fetal Intestine Small	intestine
17	chr11:47546800-47560200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:47547000-47557800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:47547200-47554000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:47547200-47554000	Weak transcription	NH-A	brain
21	chr11:47547200-47555200	Weak transcription	Primary B cells from cord blood	blood
22	chr11:47547200-47559600	Weak transcription	HUVEC	blood vessel
23	chr11:47547400-47553800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:47547400-47553800	Weak transcription	Osteobl	bone
25	chr11:47547400-47554000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:47547400-47554000	Weak transcription	HSMMtube	muscle
27	chr11:47547400-47554000	Weak transcription	NHDF-Ad	bronchial
28	chr11:47547400-47554200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:47547400-47558000	Weak transcription	Small Intestine	intestine
30	chr11:47547400-47560400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:47547400-47560800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:47547600-47553800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:47547600-47554000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:47547600-47554200	Weak transcription	HSMM	muscle
35	chr11:47547800-47553800	Weak transcription	Right Atrium	heart
36	chr11:47547800-47554000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:47547800-47554400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:47547800-47555000	Weak transcription	Right Ventricle	heart
39	chr11:47547800-47562000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:47548000-47553800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:47548000-47554000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:47548000-47554000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:47548200-47560400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:47548400-47554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:47549000-47559400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:47549200-47556400	Weak transcription	Primary T cells from cord blood	blood
47	chr11:47549400-47554000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:47550000-47553800	Weak transcription	GM12878-XiMat	blood
49	chr11:47550000-47554000	Strong transcription	Fetal Stomach	stomach
50	chr11:47550000-47556400	Weak transcription	A549	lung

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