Variant report

Variant	rs11909777
Chromosome Location	chr21:40676318-40676319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40674900..40676993-chr21:40757962..40759771,2	MCF-7	breast:
2	chr21:40671195..40673748-chr21:40675125..40678603,4	K562	blood:
3	chr21:40675820..40678831-chr21:40721085..40724268,3	K562	blood:
4	chr21:40675223..40677979-chr21:40720098..40723094,2	MCF-7	breast:
5	chr21:40663279..40665811-chr21:40674696..40676596,2	K562	blood:
6	chr21:40671338..40675047-chr21:40676117..40679838,4	K562	blood:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11908880	0.96[AFR][1000 genomes]
rs11908897	0.96[AFR][1000 genomes]
rs11908944	0.96[AFR][1000 genomes]
rs11909386	0.87[AFR][1000 genomes]
rs11909443	1.00[AFR][1000 genomes]
rs11909577	0.83[AFR][1000 genomes]
rs11909669	0.91[AFR][1000 genomes]
rs11909713	0.96[AFR][1000 genomes]
rs11909772	1.00[AFR][1000 genomes]
rs11909939	0.96[AFR][1000 genomes]
rs11910576	0.83[AFR][1000 genomes]
rs11911019	0.96[AFR][1000 genomes]
rs11911643	0.87[AFR][1000 genomes]
rs11911877	0.98[AFR][1000 genomes]
rs11911886	1.00[AFR][1000 genomes]
rs11911931	1.00[AFR][1000 genomes]
rs34402836	0.96[AFR][1000 genomes]
rs7275380	0.96[AFR][1000 genomes]
rs7276259	0.94[AFR][1000 genomes]
rs7276914	0.96[AFR][1000 genomes]
rs7278301	0.83[AFR][1000 genomes]
rs8130640	1.00[AFR][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	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3429298	chr21:40670131-40688774	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
2	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40646600-40683400	Weak transcription	Fetal Brain Male	brain
4	chr21:40655000-40676800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:40655000-40683000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:40655400-40683200	Strong transcription	Dnd41	blood
7	chr21:40655800-40677400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr21:40655800-40677400	Strong transcription	Fetal Thymus	thymus
9	chr21:40656400-40676600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:40656400-40676800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:40656400-40683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:40659600-40676800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:40659600-40676800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr21:40661800-40683400	Weak transcription	Stomach Mucosa	stomach
15	chr21:40663600-40683400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:40663800-40676600	Strong transcription	Left Ventricle	heart
17	chr21:40664000-40684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr21:40665000-40683800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr21:40665200-40684400	Weak transcription	Colonic Mucosa	Colon
20	chr21:40666000-40682600	Weak transcription	NHLF	lung
21	chr21:40667000-40684000	Weak transcription	HSMMtube	muscle
22	chr21:40667000-40684200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:40669200-40684200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr21:40669400-40676600	Strong transcription	Fetal Intestine Large	intestine
25	chr21:40669400-40684000	Weak transcription	HUVEC	blood vessel
26	chr21:40669400-40684400	Weak transcription	Esophagus	oesophagus
27	chr21:40669800-40676400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:40669800-40679800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr21:40669800-40683800	Weak transcription	Brain Substantia Nigra	brain
30	chr21:40670400-40677200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:40670400-40677400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr21:40670400-40680600	Weak transcription	Brain Hippocampus Middle	brain
33	chr21:40670400-40683800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr21:40670600-40676600	Strong transcription	Thymus	Thymus
35	chr21:40670600-40683200	Weak transcription	NHDF-Ad	bronchial
36	chr21:40670800-40679600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr21:40670800-40679800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:40670800-40680000	Weak transcription	HepG2	liver
39	chr21:40671400-40683200	Weak transcription	HMEC	breast
40	chr21:40671600-40676600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr21:40671600-40676600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:40672200-40684000	Weak transcription	Aorta	Aorta
43	chr21:40672400-40683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr21:40672400-40684000	Weak transcription	Small Intestine	intestine
45	chr21:40672600-40676800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr21:40672600-40677200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr21:40672600-40679600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr21:40672600-40682400	Weak transcription	Brain Anterior Caudate	brain
49	chr21:40672600-40682600	Weak transcription	Psoas Muscle	Psoas
50	chr21:40672600-40683800	Weak transcription	Muscle Satellite Cultured Cells	--

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