Variant report

Variant	rs1313360
Chromosome Location	chr11:57437836-57437837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57436045..57439920-chr11:57463580..57467800,3	K562	blood:
2	chr11:57281647..57284609-chr11:57436197..57438569,2	K562	blood:
3	chr11:57435166..57438481-chr11:57528814..57531638,3	K562	blood:
4	chr11:57437681..57440408-chr11:57478752..57481185,2	K562	blood:
5	chr11:57433884..57439071-chr11:57477629..57483930,15	K562	blood:
6	chr11:57423095..57430151-chr11:57432283..57438412,24	K562	blood:
7	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:

Variant related genes	Relation type
ENSG00000213593	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000149150	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10444364	1.00[ASN][1000 genomes]
rs10736687	1.00[ASN][1000 genomes]
rs10750868	1.00[ASN][1000 genomes]
rs10896643	1.00[ASN][1000 genomes]
rs1553827	1.00[ASN][1000 genomes]
rs1798174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1939322	1.00[ASN][1000 genomes]
rs2860261	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34430954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs474073	1.00[ASN][1000 genomes]
rs474464	1.00[ASN][1000 genomes]
rs505995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs523739	1.00[ASN][1000 genomes]
rs542777	1.00[ASN][1000 genomes]
rs552122	1.00[ASN][1000 genomes]
rs554140	1.00[ASN][1000 genomes]
rs557051	1.00[ASN][1000 genomes]
rs55786036	1.00[ASN][1000 genomes]
rs55838210	1.00[ASN][1000 genomes]
rs56879142	1.00[ASN][1000 genomes]
rs58176671	1.00[ASN][1000 genomes]
rs585190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58851976	1.00[ASN][1000 genomes]
rs59046396	1.00[ASN][1000 genomes]
rs60282001	1.00[ASN][1000 genomes]
rs60897155	1.00[ASN][1000 genomes]
rs61444907	1.00[ASN][1000 genomes]
rs61638601	1.00[ASN][1000 genomes]
rs61743110	1.00[ASN][1000 genomes]
rs627861	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs635663	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs637116	1.00[ASN][1000 genomes]
rs648412	1.00[ASN][1000 genomes]
rs7103407	1.00[ASN][1000 genomes]
rs7103768	1.00[ASN][1000 genomes]
rs7118249	1.00[ASN][1000 genomes]
rs7131175	1.00[ASN][1000 genomes]
rs73472468	1.00[ASN][1000 genomes]
rs73482748	1.00[ASN][1000 genomes]
rs73482786	1.00[ASN][1000 genomes]
rs73482796	1.00[ASN][1000 genomes]
rs73482801	1.00[ASN][1000 genomes]
rs7928666	1.00[ASN][1000 genomes]
rs7938752	1.00[ASN][1000 genomes]
rs947940	1.00[ASN][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57436400-57439800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57436400-57439800	Weak transcription	Gastric	stomach
3	chr11:57436400-57439800	Weak transcription	Ovary	ovary
4	chr11:57436400-57439800	Weak transcription	Spleen	Spleen
5	chr11:57436400-57440200	Weak transcription	Pancreas	Pancrea
6	chr11:57436400-57440400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:57436600-57438600	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:57436600-57439200	Weak transcription	Aorta	Aorta
9	chr11:57436600-57439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:57436600-57440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:57436800-57438000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:57436800-57438200	Enhancers	Brain Cingulate Gyrus	brain
14	chr11:57436800-57438800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:57436800-57438800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:57436800-57438800	Enhancers	Left Ventricle	heart
17	chr11:57436800-57439000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:57436800-57439800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:57436800-57441800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:57437000-57438000	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr11:57437000-57438000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:57437000-57438200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr11:57437000-57438200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:57437000-57438400	Enhancers	Primary B cells from cord blood	blood
25	chr11:57437000-57438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:57437000-57438800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:57437000-57439000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:57437000-57439200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:57437000-57439200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:57437000-57439200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:57437000-57439200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:57437000-57439200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr11:57437000-57439200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:57437000-57439400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:57437000-57439400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:57437000-57439400	Weak transcription	Brain Substantia Nigra	brain
37	chr11:57437000-57439400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:57437000-57439600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:57437000-57439800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:57437000-57439800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:57437000-57440200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:57437000-57440400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:57437200-57438000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:57437200-57438000	Enhancers	Brain Anterior Caudate	brain
45	chr11:57437200-57438000	Enhancers	Thymus	Thymus
46	chr11:57437200-57438200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:57437200-57438200	Enhancers	Liver	Liver
48	chr11:57437200-57438200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:57437200-57438200	Enhancers	NHEK	skin
50	chr11:57437200-57438400	Weak transcription	Fetal Intestine Large	intestine

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