Variant report

Variant	rs2289572
Chromosome Location	chr11:64135821-64135822
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	chr11:64135465-64136352	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64109881..64111855-chr11:64133926..64136409,2	K562	blood:
2	chr11:64122681..64124729-chr11:64134765..64136961,2	K562	blood:
3	chr11:64109881..64112376-chr11:64133926..64136409,3	K562	blood:

Variant related genes	Relation type
MIR1237	TF binding region
ENSG00000168071	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10128649	0.93[ASN][1000 genomes]
rs10556	0.91[ASN][1000 genomes]
rs10732887	0.89[ASN][1000 genomes]
rs1207462	0.91[ASN][1000 genomes]
rs1213140	0.89[ASN][1000 genomes]
rs12271952	0.84[ASN][1000 genomes]
rs12281471	0.98[ASN][1000 genomes]
rs12283639	0.98[ASN][1000 genomes]
rs12287065	0.91[ASN][1000 genomes]
rs12574188	0.91[ASN][1000 genomes]
rs12575515	0.91[ASN][1000 genomes]
rs12575690	1.00[ASN][1000 genomes]
rs12577422	0.89[ASN][1000 genomes]
rs12577425	0.87[ASN][1000 genomes]
rs1468558	0.91[ASN][1000 genomes]
rs17159027	0.93[ASN][1000 genomes]
rs1783518	0.89[ASN][1000 genomes]
rs2232410	0.93[ASN][1000 genomes]
rs2282548	0.98[ASN][1000 genomes]
rs2286612	0.82[ASN][1000 genomes]
rs2302262	0.91[ASN][1000 genomes]
rs3759056	0.98[ASN][1000 genomes]
rs41294376	0.87[ASN][1000 genomes]
rs473379	0.91[ASN][1000 genomes]
rs474430	0.85[ASN][1000 genomes]
rs490720	0.91[ASN][1000 genomes]
rs4930167	0.89[ASN][1000 genomes]
rs493052	0.91[ASN][1000 genomes]
rs494998	0.91[ASN][1000 genomes]
rs4963221	0.82[ASN][1000 genomes]
rs518698	0.89[ASN][1000 genomes]
rs520277	0.89[ASN][1000 genomes]
rs539008	0.91[ASN][1000 genomes]
rs539250	0.89[ASN][1000 genomes]
rs543767	0.85[ASN][1000 genomes]
rs554812	0.91[ASN][1000 genomes]
rs569741	0.91[ASN][1000 genomes]
rs575081	0.91[ASN][1000 genomes]
rs58010797	0.89[ASN][1000 genomes]
rs58488481	0.91[ASN][1000 genomes]
rs58721876	0.91[ASN][1000 genomes]
rs59283629	0.91[ASN][1000 genomes]
rs60421451	0.93[ASN][1000 genomes]
rs60579179	0.89[ASN][1000 genomes]
rs61431997	0.91[ASN][1000 genomes]
rs621816	0.91[ASN][1000 genomes]
rs7110262	0.91[ASN][1000 genomes]
rs7121001	0.89[ASN][1000 genomes]
rs7950922	0.98[ASN][1000 genomes]
rs7951858	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
2	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
4	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
5	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
6	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
7	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
9	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
10	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
11	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv897689	chr11:64109118-64148420	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv897691	chr11:64118422-64137875	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
14	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64127400-64136000	Weak transcription	Fetal Kidney	kidney
2	chr11:64127400-64140000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:64127400-64144400	Weak transcription	Psoas Muscle	Psoas
4	chr11:64127600-64139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:64127800-64137600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:64127800-64139800	Strong transcription	Fetal Intestine Small	intestine
7	chr11:64127800-64146800	Weak transcription	Fetal Heart	heart
8	chr11:64128000-64136200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:64128000-64138000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64128000-64138200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:64128000-64138200	Strong transcription	Left Ventricle	heart
12	chr11:64128000-64138800	Strong transcription	Ovary	ovary
13	chr11:64128000-64139000	Strong transcription	Primary T cells from cord blood	blood
14	chr11:64128000-64139000	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:64128000-64140000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:64128200-64137000	Strong transcription	Colon Smooth Muscle	Colon
17	chr11:64128200-64138200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr11:64128200-64138400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr11:64128200-64138800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:64128200-64138800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr11:64128200-64139400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:64128200-64139600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:64128200-64139600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:64128200-64139800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:64128200-64140000	Strong transcription	Lung	lung
26	chr11:64128400-64136000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:64128400-64136200	Strong transcription	Brain Cingulate Gyrus	brain
28	chr11:64128400-64137000	Strong transcription	Thymus	Thymus
29	chr11:64128400-64138200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:64128400-64138200	Strong transcription	Brain Anterior Caudate	brain
31	chr11:64128400-64139000	Strong transcription	Adipose Nuclei	Adipose
32	chr11:64128400-64139400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:64128400-64139600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:64128400-64140400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:64128600-64136200	Strong transcription	Liver	Liver
36	chr11:64128600-64138000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:64128600-64138000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:64128600-64138000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:64128600-64138400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:64128600-64139200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:64128800-64137200	Strong transcription	Spleen	Spleen
42	chr11:64128800-64137600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:64128800-64137800	Strong transcription	Brain Hippocampus Middle	brain
44	chr11:64128800-64138000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr11:64128800-64138400	Strong transcription	Aorta	Aorta
46	chr11:64128800-64139800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:64129000-64138200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:64129000-64138200	Strong transcription	Dnd41	blood
49	chr11:64129000-64139600	Strong transcription	Gastric	stomach
50	chr11:64129000-64140200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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