Variant report

Variant	rs11617901
Chromosome Location	chr13:97923840-97923841
allele	C/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	chr13:97923628-97924072	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:97922761..97924457-chr13:97933917..97935651,2	K562	blood:

Variant related genes	Relation type
MBNL2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1974085	0.85[CHB][hapmap]
rs4441122	0.94[CHB][hapmap]
rs4612924	0.94[CHB][hapmap]
rs4771989	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4771992	0.94[CHB][hapmap]
rs7329525	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7333604	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7334227	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7999382	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9513224	0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9516884	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516885	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9516886	0.81[EUR][1000 genomes]
rs9516887	0.81[EUR][1000 genomes]
rs9516889	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9516900	0.95[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045777	chr13:97875574-97955134	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97910600-97927600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:97910600-97935000	Weak transcription	Colonic Mucosa	Colon
3	chr13:97912800-97925200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:97913200-97924800	Weak transcription	Stomach Mucosa	stomach
5	chr13:97913600-97925200	Weak transcription	HSMMtube	muscle
6	chr13:97913600-97926600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr13:97913800-97926600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:97914200-97925200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr13:97914200-97925400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:97914200-97927600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:97914200-97927800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr13:97914200-97960200	Weak transcription	Fetal Brain Male	brain
13	chr13:97914400-97927400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr13:97914400-97928000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:97914400-97929000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr13:97914600-97925800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:97914600-97925800	Weak transcription	GM12878-XiMat	blood
18	chr13:97914600-97927200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr13:97914600-97927200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr13:97914800-97925400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:97915400-97927800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:97917200-97925200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr13:97917800-97924800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:97917800-97925600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr13:97918200-97924000	Enhancers	Right Ventricle	heart
26	chr13:97919000-97935000	Weak transcription	Gastric	stomach
27	chr13:97919800-97924800	Weak transcription	Osteobl	bone
28	chr13:97919800-97925000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:97919800-97925000	Weak transcription	NHDF-Ad	bronchial
30	chr13:97919800-97926600	Weak transcription	Fetal Kidney	kidney
31	chr13:97920000-97931200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:97920200-97925200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:97920200-97927800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:97920200-97927800	Weak transcription	Fetal Thymus	thymus
35	chr13:97920200-97930800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:97920400-97932200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:97920800-97926800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr13:97920800-97927800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:97921000-97927200	Weak transcription	Primary B cells from cord blood	blood
40	chr13:97921200-97924800	Weak transcription	Fetal Heart	heart
41	chr13:97921200-97927800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:97921200-97928000	Weak transcription	Placenta	Placenta
43	chr13:97921400-97925200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:97921400-97926000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr13:97921400-97926400	Weak transcription	Fetal Intestine Large	intestine
46	chr13:97921400-97932800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:97921400-97934800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr13:97921600-97924000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr13:97921600-97924000	Enhancers	HUVEC	blood vessel
50	chr13:97921600-97924600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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