Variant report

Variant	rs7947669
Chromosome Location	chr11:18627307-18627308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18618133..18619654-chr11:18626232..18627753,2	K562	blood:
2	chr11:18626711..18629551-chr11:18638352..18640107,2	MCF-7	breast:
3	chr11:18620834..18624812-chr11:18626508..18629518,4	K562	blood:
4	chr11:18625144..18627417-chr11:18628877..18631638,2	K562	blood:

Variant related genes	Relation type
ENSG00000247595	Chromatin interaction
ENSG00000256282	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16935609	0.93[AFR][1000 genomes]
rs58804032	0.93[AFR][1000 genomes]
rs58988307	0.91[AFR][1000 genomes]
rs61424905	0.93[AFR][1000 genomes]
rs7110470	0.93[AFR][1000 genomes]
rs73424445	0.93[AFR][1000 genomes]
rs73424447	0.93[AFR][1000 genomes]
rs7936497	0.93[AFR][1000 genomes]
rs7936520	0.91[AFR][1000 genomes]
rs7938645	0.93[AFR][1000 genomes]
rs7942526	0.91[AFR][1000 genomes]
rs7951729	0.93[AFR][1000 genomes]
rs872872	0.93[AFR][1000 genomes]
rs872873	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv972916	chr11:18621468-18629611	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18611000-18628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:18611200-18628600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:18611200-18636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:18611400-18627600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:18611400-18635800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:18611600-18629200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:18611600-18629600	Weak transcription	Fetal Kidney	kidney
8	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:18612000-18629600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:18612000-18630800	Weak transcription	Colonic Mucosa	Colon
11	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:18612200-18629800	Weak transcription	HUVEC	blood vessel
13	chr11:18612400-18627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:18612400-18631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:18612800-18628800	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:18612800-18629600	Weak transcription	Stomach Mucosa	stomach
18	chr11:18612800-18630800	Weak transcription	HSMMtube	muscle
19	chr11:18613000-18628800	Weak transcription	K562	blood
20	chr11:18614200-18627400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:18614600-18631000	Weak transcription	HepG2	liver
22	chr11:18617400-18627400	Weak transcription	Hela-S3	cervix
23	chr11:18617800-18628600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:18617800-18628800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:18617800-18629200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:18617800-18630000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:18617800-18630000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:18617800-18630200	Weak transcription	Brain Anterior Caudate	brain
29	chr11:18617800-18632200	Weak transcription	Brain Substantia Nigra	brain
30	chr11:18618000-18627400	Weak transcription	Aorta	Aorta
31	chr11:18618000-18627400	Weak transcription	Liver	Liver
32	chr11:18618000-18636400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:18618200-18628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:18618200-18628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:18618200-18628600	Weak transcription	Fetal Intestine Large	intestine
36	chr11:18618200-18628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:18618200-18628800	Weak transcription	HSMM	muscle
38	chr11:18618200-18631200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:18618400-18627400	Weak transcription	Spleen	Spleen
40	chr11:18618400-18627600	Weak transcription	Fetal Brain Female	brain
41	chr11:18618400-18628800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:18618400-18629600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:18618400-18629600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:18618400-18629600	Weak transcription	NHLF	lung
45	chr11:18618400-18630600	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:18618400-18631000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:18618400-18635000	Weak transcription	NHEK	skin
48	chr11:18618600-18627400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:18618600-18627400	Weak transcription	Ovary	ovary
50	chr11:18618600-18629400	Weak transcription	Rectal Mucosa Donor 31	rectum

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