Variant report

Variant	rs11911019
Chromosome Location	chr21:40637249-40637250
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	POLR2A	chr21:40637226-40637325	MCF-7	breast:	n/a	n/a
2	MYC	chr21:40637210-40637276	MCF-7	breast:	n/a	n/a
3	POLR2A	chr21:40637211-40637294	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40635414..40638745-chr21:40717382..40720310,3	K562	blood:
2	chr21:40634451..40636923-chr21:40637175..40639138,3	K562	blood:
3	chr21:40635630..40638349-chr21:40720638..40723544,2	MCF-7	breast:

Variant related genes	Relation type
BRWD1	TF binding region
ENSG00000185658	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000238556	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11908880	1.00[AFR][1000 genomes]
rs11908897	1.00[AFR][1000 genomes]
rs11908944	1.00[AFR][1000 genomes]
rs11909386	0.83[AFR][1000 genomes]
rs11909443	0.96[AFR][1000 genomes]
rs11909577	0.87[AFR][1000 genomes]
rs11909669	0.96[AFR][1000 genomes]
rs11909713	1.00[AFR][1000 genomes]
rs11909772	0.96[AFR][1000 genomes]
rs11909777	0.96[AFR][1000 genomes]
rs11909939	1.00[AFR][1000 genomes]
rs11910576	0.87[AFR][1000 genomes]
rs11911643	0.91[AFR][1000 genomes]
rs11911877	0.94[AFR][1000 genomes]
rs11911886	0.96[AFR][1000 genomes]
rs11911931	0.96[AFR][1000 genomes]
rs34402836	1.00[AFR][1000 genomes]
rs7275380	1.00[AFR][1000 genomes]
rs7276259	0.90[AFR][1000 genomes]
rs7276914	1.00[AFR][1000 genomes]
rs8130640	0.96[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	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
2	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:40565400-40653600	Strong transcription	Dnd41	blood
9	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:40582800-40654000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr21:40593400-40650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr21:40603200-40653400	Weak transcription	Right Atrium	heart
13	chr21:40608400-40638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:40608400-40667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:40613400-40652000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr21:40613800-40651000	Strong transcription	Fetal Thymus	thymus
17	chr21:40614000-40654400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:40614600-40654200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:40614800-40652400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:40615800-40639800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr21:40616400-40651800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr21:40618000-40659200	Weak transcription	Stomach Mucosa	stomach
23	chr21:40619000-40638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:40619400-40656200	Weak transcription	Ovary	ovary
25	chr21:40619600-40660200	Weak transcription	Brain Angular Gyrus	brain
26	chr21:40620000-40640400	Weak transcription	A549	lung
27	chr21:40624000-40642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr21:40625000-40644000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr21:40625400-40643600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr21:40625800-40639200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:40625800-40652400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr21:40626200-40653400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr21:40626800-40654000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:40627200-40641600	Strong transcription	Fetal Muscle Leg	muscle
35	chr21:40627800-40640200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr21:40628800-40639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:40628800-40642400	Weak transcription	Pancreas	Pancrea
38	chr21:40628800-40642600	Weak transcription	Right Ventricle	heart
39	chr21:40630200-40652200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:40630200-40661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr21:40630200-40662800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr21:40630400-40653800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr21:40631200-40647800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:40631200-40663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr21:40631600-40640800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr21:40631600-40646600	Strong transcription	Adipose Nuclei	Adipose
47	chr21:40631600-40650600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr21:40631600-40653400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:40631800-40639600	Strong transcription	Primary T cells from cord blood	blood
50	chr21:40631800-40646000	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links