Variant report

Variant	rs2969946
Chromosome Location	chr11:57449587-57449588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57447901..57451282-chr11:57477513..57480655,3	K562	blood:
2	chr11:57434556..57437314-chr11:57447656..57451477,4	MCF-7	breast:
3	chr11:57438475..57441494-chr11:57446388..57449628,4	K562	blood:

Variant related genes	Relation type
ENSG00000213593	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000254462	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10896641	0.80[AFR][1000 genomes]
rs11229097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11570214	0.81[AFR][1000 genomes]
rs11570222	1.00[YRI][hapmap]
rs12284270	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1704778	1.00[YRI][hapmap]
rs2911726	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926652	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926657	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs2956979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969934	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969940	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs686459	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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 miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	58 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	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57437400-57449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:57437400-57458000	Weak transcription	Fetal Heart	heart
4	chr11:57438600-57464600	Strong transcription	Fetal Brain Female	brain
5	chr11:57438600-57469400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr11:57438600-57478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:57438800-57449600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:57438800-57464600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:57438800-57469600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:57438800-57473800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr11:57439000-57469400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:57439000-57473400	Strong transcription	Fetal Thymus	thymus
13	chr11:57439000-57477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:57439200-57451400	Strong transcription	Primary B cells from cord blood	blood
15	chr11:57439200-57464600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:57439200-57469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:57439400-57457400	Strong transcription	Thymus	Thymus
18	chr11:57439400-57473000	Strong transcription	Placenta	Placenta
19	chr11:57439800-57473400	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:57440600-57457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:57440800-57454800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:57440800-57456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:57441000-57449600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:57441000-57457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:57441200-57450000	Weak transcription	Aorta	Aorta
26	chr11:57441200-57450000	Weak transcription	Brain Angular Gyrus	brain
27	chr11:57441200-57457600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:57441200-57460600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:57442400-57449800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:57442800-57472800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:57443200-57449800	Weak transcription	HSMMtube	muscle
32	chr11:57443200-57472600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:57443600-57458400	Strong transcription	Dnd41	blood
34	chr11:57443800-57450400	Strong transcription	Fetal Stomach	stomach
35	chr11:57444000-57449800	Weak transcription	Brain Substantia Nigra	brain
36	chr11:57444200-57451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:57445200-57450200	Strong transcription	Fetal Lung	lung
38	chr11:57445400-57452000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:57445400-57454200	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr11:57445600-57454800	Weak transcription	Spleen	Spleen
41	chr11:57445800-57456200	Weak transcription	Fetal Brain Male	brain
42	chr11:57446600-57452000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:57446600-57474200	Strong transcription	Fetal Intestine Large	intestine
44	chr11:57446800-57450400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr11:57446800-57453600	Strong transcription	A549	lung
46	chr11:57446800-57464600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:57447000-57449600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:57447000-57449600	Genic enhancers	K562	blood
49	chr11:57447000-57449800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:57447000-57450000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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