Variant report

Variant	rs509932
Chromosome Location	chr11:63419164-63419165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63413943..63415778-chr11:63418159..63420803,2	K562	blood:
2	chr11:63417205..63419913-chr11:63437420..63439431,2	MCF-7	breast:
3	chr11:63417250..63419561-chr11:63424923..63427108,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184743	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17158455	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158456	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957207	1.00[MKK][hapmap]
rs2957254	1.00[YRI][hapmap]
rs480977	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499942	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501095	1.00[YRI][hapmap]
rs502017	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs502717	1.00[YRI][hapmap]
rs512073	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs512249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516068	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs518304	1.00[YRI][hapmap]
rs519374	1.00[YRI][hapmap]
rs538627	1.00[YRI][hapmap]
rs542124	1.00[YRI][hapmap]
rs565324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs569657	1.00[YRI][hapmap]
rs622400	1.00[YRI][hapmap]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv353	chr11:63411216-63428498	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr11:63393800-63426600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:63395000-63426800	Strong transcription	Dnd41	blood
3	chr11:63395600-63421000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:63397800-63430800	Weak transcription	Fetal Brain Male	brain
5	chr11:63398800-63420200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:63398800-63421400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:63398800-63426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:63399000-63434000	Weak transcription	Small Intestine	intestine
9	chr11:63399200-63433800	Weak transcription	Fetal Heart	heart
10	chr11:63399800-63437800	Weak transcription	Fetal Brain Female	brain
11	chr11:63400400-63437600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:63400600-63431000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:63403400-63431000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:63403800-63427200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:63404000-63424400	Weak transcription	Esophagus	oesophagus
16	chr11:63407600-63419800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:63407800-63419200	Strong transcription	Placenta	Placenta
18	chr11:63407800-63421600	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:63407800-63423400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:63407800-63426800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:63407800-63426800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:63407800-63427400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:63408200-63419400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:63408200-63423400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:63408400-63419600	Strong transcription	A549	lung
26	chr11:63408400-63420000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:63408400-63421600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:63408400-63426800	Strong transcription	Hela-S3	cervix
29	chr11:63408600-63419600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:63408800-63421200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:63409600-63425600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:63409800-63423600	Strong transcription	Liver	Liver
33	chr11:63410200-63425600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:63410800-63435000	Weak transcription	Stomach Mucosa	stomach
35	chr11:63411000-63435200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:63411000-63437800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:63411200-63420000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:63411200-63424800	Weak transcription	Fetal Kidney	kidney
39	chr11:63411200-63437000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:63411400-63424400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:63411800-63420200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:63411800-63430200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:63412200-63419400	Strong transcription	Lung	lung
44	chr11:63414000-63419600	Weak transcription	Fetal Intestine Large	intestine
45	chr11:63414400-63422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:63414400-63422600	Weak transcription	Fetal Thymus	thymus
47	chr11:63414600-63424400	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:63414600-63424800	Weak transcription	Aorta	Aorta
49	chr11:63414600-63435600	Weak transcription	Thymus	Thymus
50	chr11:63414600-63437400	Weak transcription	H1 Cell Line	embryonic stem cell

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