Variant report

Variant	rs11821779
Chromosome Location	chr11:46681415-46681416
allele	A/C
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	SPI1	chr11:46681406-46681998	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:46681373-46681878	HL-60	blood:	n/a	n/a
3	RFX5	chr11:46681320-46681991	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:46681365-46681978	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46678596..46681633-chr11:46687108..46691156,3	K562	blood:

Variant related genes	Relation type
ATG13	TF binding region
ENSG00000175224	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11038933	1.00[JPT][hapmap]
rs11821839	0.91[AFR][1000 genomes]
rs11821877	1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[AFR][1000 genomes]
rs11822837	1.00[ASW][hapmap]
rs11824513	0.91[AFR][1000 genomes]
rs11828340	1.00[AFR][1000 genomes]
rs4447137	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs4551720	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7939371	1.00[AFR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking 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	34 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	chr11:46642000-46685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:46643600-46690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:46656600-46691200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:46659600-46695200	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr11:46664000-46690600	Strong transcription	Primary T cells from cord blood	blood
7	chr11:46664200-46689600	Strong transcription	Dnd41	blood
8	chr11:46664200-46692600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr11:46664200-46695400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:46664400-46685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:46664400-46691000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:46664400-46691400	Strong transcription	Fetal Thymus	thymus
13	chr11:46665600-46691000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:46665800-46685000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:46665800-46688600	Strong transcription	Fetal Muscle Leg	muscle
16	chr11:46665800-46690600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:46665800-46695200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:46666000-46681800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:46666000-46691000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:46666000-46695400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:46666400-46682000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr11:46667000-46690800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:46667000-46691000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:46667000-46691600	Strong transcription	Thymus	Thymus
25	chr11:46667200-46695400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:46667200-46695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
28	chr11:46667400-46686800	Strong transcription	Lung	lung
29	chr11:46667400-46696000	Strong transcription	Fetal Brain Female	brain
30	chr11:46670400-46688200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:46670600-46681800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr11:46670600-46682000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:46670600-46691000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr11:46670600-46695600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:46670800-46682000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:46670800-46682000	Strong transcription	Fetal Kidney	kidney
37	chr11:46670800-46682600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:46670800-46685000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:46670800-46688200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:46671200-46682200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:46671400-46696000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:46671400-46696000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:46671600-46687800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:46671600-46688600	Strong transcription	Fetal Stomach	stomach
45	chr11:46672000-46684800	Weak transcription	Aorta	Aorta
46	chr11:46672200-46682600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:46672200-46685000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:46672400-46681800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:46673400-46683600	Strong transcription	Ovary	ovary
50	chr11:46674000-46689600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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