Variant report

Variant	rs4363239
Chromosome Location	chr8:131365073-131365074
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131362151..131363810-chr8:131363977..131365587,2	MCF-7	breast:
2	chr8:131364073..131367147-chr8:131368498..131370803,3	MCF-7	breast:
3	chr8:131257852..131260097-chr8:131363084..131365301,2	K562	blood:
4	chr8:131356285..131362086-chr8:131362586..131365729,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1417008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1426102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1556972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16904209	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs16904210	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs16904214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs16904215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16904227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs16904229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs16904230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16904232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16904235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16904236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16904237	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16904247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16904253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16904261	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904263	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16904264	0.87[EUR][1000 genomes]
rs17210536	0.88[CEU][hapmap]
rs2303444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs4629915	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7463951	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4363239	ASAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:131353800-131367600	Weak transcription	Dnd41	blood
4	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
6	chr8:131355000-131365800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:131355400-131365200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:131355400-131368400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:131355400-131369000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:131355600-131369400	Weak transcription	Hela-S3	cervix
11	chr8:131357000-131368400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:131358000-131369000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:131358800-131367600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:131358800-131368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:131359000-131369000	Weak transcription	Esophagus	oesophagus
16	chr8:131359600-131368000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:131359600-131368600	Weak transcription	Liver	Liver
18	chr8:131359800-131366400	Weak transcription	Fetal Brain Male	brain
19	chr8:131359800-131368800	Weak transcription	Fetal Lung	lung
20	chr8:131359800-131369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:131359800-131369600	Weak transcription	Fetal Kidney	kidney
22	chr8:131360000-131365800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:131360000-131368400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:131360000-131368800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:131360000-131369000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:131360000-131369000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:131360000-131369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:131360000-131369400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:131360200-131369000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:131360600-131367000	Weak transcription	Lung	lung
31	chr8:131360600-131368400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:131360600-131369000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:131360800-131365600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:131360800-131365800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:131361000-131365400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:131361000-131366000	Weak transcription	Brain Germinal Matrix	brain
37	chr8:131361200-131365200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:131361200-131368600	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:131361200-131368600	Weak transcription	Thymus	Thymus
40	chr8:131361400-131365200	Genic enhancers	Osteobl	bone
41	chr8:131361400-131367800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:131361400-131368400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:131361400-131368800	Weak transcription	Placenta	Placenta
44	chr8:131361400-131368800	Weak transcription	Fetal Thymus	thymus
45	chr8:131361800-131365400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:131361800-131367800	Weak transcription	Fetal Brain Female	brain
47	chr8:131362000-131365600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:131362000-131366800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:131362400-131368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:131362600-131365600	Strong transcription	HUVEC	blood vessel

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