Variant report

Variant	rs8043232
Chromosome Location	chr15:41282371-41282372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41279189..41280997-chr15:41281365..41284292,2	MCF-7	breast:
2	chr15:41280289..41283172-chr15:41302964..41304799,2	K562	blood:
3	chr15:41281416..41284789-chr15:41286455..41289587,3	K562	blood:
4	chr15:41274873..41278320-chr15:41280066..41282862,4	K562	blood:
5	chr15:41264586..41267497-chr15:41281523..41283917,2	MCF-7	breast:
6	chr15:41269511..41271032-chr15:41281628..41283628,2	K562	blood:

Variant related genes	Relation type
ENSG00000128908	Chromatin interaction
ENSG00000259463	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10152296	0.83[YRI][hapmap];0.89[AMR][1000 genomes]
rs10438297	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11070319	0.88[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs11070320	0.89[AMR][1000 genomes]
rs11630905	0.83[AMR][1000 genomes]
rs16971263	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs16971264	1.00[MEX][hapmap]
rs16971413	1.00[TSI][hapmap]
rs16971463	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes]
rs16971507	1.00[MEX][hapmap]
rs2007255	1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.94[AMR][1000 genomes]
rs2412573	0.84[AMR][1000 genomes]
rs2412599	1.00[GIH][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs2412600	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs28455970	0.89[AMR][1000 genomes]
rs28528813	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2899010	0.82[YRI][hapmap];0.89[AMR][1000 genomes]
rs2925344	1.00[MEX][hapmap]
rs2925348	0.83[AMR][1000 genomes]
rs2925349	0.89[AMR][1000 genomes]
rs2928147	0.89[AMR][1000 genomes]
rs2928149	0.89[AMR][1000 genomes]
rs2928150	0.89[AMR][1000 genomes]
rs2928154	0.89[AMR][1000 genomes]
rs2947492	0.83[AMR][1000 genomes]
rs2947496	0.83[AMR][1000 genomes]
rs2955812	0.89[AMR][1000 genomes]
rs3101435	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs3101438	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3101440	1.00[MEX][hapmap]
rs3101441	0.83[AMR][1000 genomes]
rs4468583	0.89[AMR][1000 genomes]
rs474351	0.88[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs480549	0.89[AMR][1000 genomes]
rs487779	0.89[AMR][1000 genomes]
rs4923894	0.89[AMR][1000 genomes]
rs4923895	0.84[AMR][1000 genomes]
rs4924533	0.88[ASW][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs496499	0.88[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes]
rs513680	0.89[AMR][1000 genomes]
rs518137	0.89[AMR][1000 genomes]
rs525551	0.83[YRI][hapmap];0.89[AMR][1000 genomes]
rs538903	0.83[AMR][1000 genomes]
rs56955512	0.89[AMR][1000 genomes]
rs57008457	0.83[AMR][1000 genomes]
rs57385441	0.89[AMR][1000 genomes]
rs58142514	0.83[AMR][1000 genomes]
rs59405359	0.83[AMR][1000 genomes]
rs690773	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes]
rs691069	0.89[AMR][1000 genomes]
rs691722	0.89[AMR][1000 genomes]
rs692703	0.83[AMR][1000 genomes]
rs7162003	0.83[AMR][1000 genomes]
rs7167166	0.89[AMR][1000 genomes]
rs7169092	1.00[MEX][hapmap]
rs7172555	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes]
rs7173146	0.89[AMR][1000 genomes]
rs7174513	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183191	0.83[AMR][1000 genomes]
rs73399092	0.89[AMR][1000 genomes]
rs8030958	1.00[MEX][hapmap]
rs8032956	0.89[AMR][1000 genomes]
rs8034461	0.83[AMR][1000 genomes]
rs8035532	0.89[AMR][1000 genomes]
rs9806344	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes]
rs9806730	1.00[MEX][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	nsv1053462	chr15:41270067-41396094	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8043232	WNT1	trans	brain	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41258800-41348400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41266800-41283800	Strong transcription	A549	lung
3	chr15:41266800-41290000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:41266800-41298400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:41267200-41294800	Strong transcription	Primary T cells from cord blood	blood
6	chr15:41267600-41294200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:41267600-41301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:41267800-41284400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr15:41267800-41284600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:41267800-41290200	Strong transcription	NHEK	skin
11	chr15:41267800-41290800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:41267800-41294200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:41267800-41301400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:41268000-41284000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr15:41268000-41284000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr15:41268000-41284800	Strong transcription	Fetal Intestine Small	intestine
17	chr15:41268000-41285000	Strong transcription	Dnd41	blood
18	chr15:41268000-41290200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:41268000-41292800	Strong transcription	Liver	Liver
20	chr15:41268000-41294800	Strong transcription	Fetal Thymus	thymus
21	chr15:41268000-41298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:41268000-41302400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:41268200-41284400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:41268200-41290200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:41268200-41295000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr15:41268600-41289800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:41268800-41282400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:41268800-41283800	Strong transcription	Primary B cells from cord blood	blood
29	chr15:41268800-41285000	Strong transcription	Hela-S3	cervix
30	chr15:41269200-41283800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:41269400-41283000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:41269600-41284000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:41272400-41283000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:41272600-41285000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:41276200-41296000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:41276400-41283000	Strong transcription	Thymus	Thymus
37	chr15:41276600-41290800	Weak transcription	Psoas Muscle	Psoas
38	chr15:41276600-41354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:41276800-41293600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr15:41276800-41305200	Weak transcription	Fetal Brain Male	brain
41	chr15:41277600-41290000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:41278000-41287800	Weak transcription	Gastric	stomach
43	chr15:41278000-41294800	Strong transcription	Fetal Muscle Leg	muscle
44	chr15:41278400-41290000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:41278600-41283800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:41278600-41287800	Weak transcription	Right Ventricle	heart
47	chr15:41279000-41284800	Strong transcription	HSMM	muscle
48	chr15:41279400-41283800	Strong transcription	Osteobl	bone
49	chr15:41279600-41282600	Weak transcription	Esophagus	oesophagus
50	chr15:41279600-41287600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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