Variant report

Variant	rs74053310
Chromosome Location	chr11:8938286-8938287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8931316..8934225-chr11:8937249..8940014,3	K562	blood:
2	chr11:8932851..8934873-chr11:8937588..8939434,2	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction
ENSG00000166452	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1967655	1.00[AMR][1000 genomes]
rs55776498	1.00[AMR][1000 genomes]
rs55972512	0.90[AFR][1000 genomes]
rs56070502	1.00[AMR][1000 genomes]
rs61690977	1.00[AMR][1000 genomes]
rs74052334	0.86[AFR][1000 genomes]
rs74052349	0.86[AFR][1000 genomes]
rs74054241	1.00[AMR][1000 genomes]
rs74054242	1.00[AMR][1000 genomes]
rs74054251	1.00[AMR][1000 genomes]
rs74055030	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr11:8933400-8947800	Weak transcription	Small Intestine	intestine
2	chr11:8933600-8944000	Weak transcription	Pancreas	Pancrea
3	chr11:8934000-8941800	Weak transcription	Colonic Mucosa	Colon
4	chr11:8934000-8952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:8934200-8938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:8934200-8941600	Weak transcription	Esophagus	oesophagus
7	chr11:8934200-8948800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:8934800-8939400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:8935000-8940400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr11:8935800-8940000	Weak transcription	Gastric	stomach
11	chr11:8936000-8938400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:8936000-8939600	Weak transcription	Fetal Brain Male	brain
13	chr11:8936000-8942800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:8936200-8939200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:8936200-8945800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:8936400-8938800	Weak transcription	Primary B cells from cord blood	blood
17	chr11:8936400-8938800	Weak transcription	Aorta	Aorta
18	chr11:8936400-8941800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:8936400-8946000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:8936400-8946800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:8936400-8951200	Weak transcription	Right Atrium	heart
22	chr11:8936600-8938400	Weak transcription	Fetal Kidney	kidney
23	chr11:8936600-8939000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:8936600-8940600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:8936600-8940800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:8936600-8941400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:8936600-8941600	Weak transcription	Ovary	ovary
28	chr11:8936600-8945000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:8936600-8945800	Weak transcription	Stomach Mucosa	stomach
30	chr11:8936600-8946600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:8936600-8948600	Strong transcription	Fetal Thymus	thymus
32	chr11:8936600-8949000	Strong transcription	Fetal Stomach	stomach
33	chr11:8936600-8954000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:8936800-8939200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:8936800-8940000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:8936800-8942200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:8936800-8947000	Strong transcription	Dnd41	blood
38	chr11:8936800-8947600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:8937000-8938400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:8937000-8947600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:8937000-8948200	Strong transcription	Fetal Brain Female	brain
42	chr11:8937200-8945000	Strong transcription	Brain Angular Gyrus	brain
43	chr11:8937200-8947400	Strong transcription	Thymus	Thymus
44	chr11:8937600-8938400	Strong transcription	Fetal Intestine Small	intestine
45	chr11:8937600-8938400	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr11:8937600-8938600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:8937600-8938600	Strong transcription	Left Ventricle	heart
48	chr11:8937600-8944800	Strong transcription	Hela-S3	cervix
49	chr11:8937800-8938400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:8937800-8938400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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