Variant report

Variant	rs13269931
Chromosome Location	chr8:131262567-131262568
allele	C/T
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	chr8:131262434-131262936	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131261093..131263625-chr8:131272270..131274011,4	K562	blood:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1030386	0.82[ASN][1000 genomes]
rs11993716	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12676014	0.93[ASN][1000 genomes]
rs12676536	0.86[EUR][1000 genomes]
rs12676977	0.86[EUR][1000 genomes]
rs12681590	0.82[ASN][1000 genomes]
rs13253189	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13256967	0.85[EUR][1000 genomes]
rs16904220	0.93[ASN][1000 genomes]
rs16904228	0.93[ASN][1000 genomes]
rs1978551	0.86[AFR][1000 genomes]
rs2114197	0.93[ASN][1000 genomes]
rs34387098	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34857454	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36004599	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55815182	0.85[ASN][1000 genomes]
rs56086422	0.82[ASN][1000 genomes]
rs58012966	0.85[ASN][1000 genomes]
rs61558949	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66488832	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6986746	0.93[ASN][1000 genomes]
rs7006658	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7014715	0.85[ASN][1000 genomes]
rs7018391	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836536	0.85[ASN][1000 genomes]
rs7837833	0.83[EUR][1000 genomes]
rs897050	0.83[EUR][1000 genomes]
rs9942745	0.84[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
2	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
3	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:131250800-131270600	Weak transcription	NH-A	brain
7	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:131252000-131262800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:131252000-131263000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
11	chr8:131254200-131262800	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:131255400-131265200	Weak transcription	HSMM	muscle
13	chr8:131256000-131267000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:131256600-131268200	Weak transcription	HSMMtube	muscle
15	chr8:131257200-131262600	Weak transcription	Brain Anterior Caudate	brain
16	chr8:131257200-131264600	Weak transcription	Osteobl	bone
17	chr8:131257400-131262600	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:131257400-131263800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:131257400-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:131257400-131281600	Weak transcription	Gastric	stomach
21	chr8:131257600-131265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:131258000-131263200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:131258000-131275400	Weak transcription	Stomach Mucosa	stomach
24	chr8:131258400-131267200	Weak transcription	Adipose Nuclei	Adipose
25	chr8:131258600-131267000	Weak transcription	HepG2	liver
26	chr8:131260000-131275200	Weak transcription	Fetal Intestine Small	intestine
27	chr8:131260600-131271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:131260800-131265000	Weak transcription	A549	lung
29	chr8:131260800-131266000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:131260800-131270200	Weak transcription	Right Ventricle	heart
31	chr8:131260800-131272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:131261000-131262800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:131261000-131264800	Weak transcription	Small Intestine	intestine
34	chr8:131261000-131268000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:131261000-131268000	Weak transcription	Psoas Muscle	Psoas
36	chr8:131261200-131263000	Enhancers	Primary T cells from cord blood	blood
37	chr8:131261200-131263000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr8:131261200-131263000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr8:131261200-131263400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:131261200-131264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:131261200-131274400	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:131261400-131262800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:131261400-131263400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:131261400-131264000	Weak transcription	Fetal Heart	heart
45	chr8:131261400-131265200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:131261400-131271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:131261400-131275800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:131261600-131263400	Weak transcription	Lung	lung
49	chr8:131261600-131263800	Weak transcription	NHDF-Ad	bronchial
50	chr8:131261600-131264600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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