Variant report

Variant	rs4236049
Chromosome Location	chr6:36216745-36216746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36163719..36166394-chr6:36216148..36218195,2	K562	blood:
2	chr6:36088861..36090519-chr6:36216465..36219444,2	MCF-7	breast:
3	chr6:36216545..36217147-chr6:36317112..36317765,2	MCF-7	breast:
4	chr6:36215705..36217439-chr6:36274116..36276265,2	MCF-7	breast:
5	chr6:36200507..36203942-chr6:36214708..36217317,3	K562	blood:
6	chr6:36215345..36217014-chr6:36269680..36271285,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096070	Chromatin interaction
ENSG00000246982	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2239798	0.88[ASW][hapmap];0.87[CEU][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs4395718	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713940	1.00[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4713941	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59200830	0.89[EUR][1000 genomes]
rs9462162	0.81[EUR][1000 genomes]
rs9462164	0.83[ASW][hapmap];0.83[CHB][hapmap]
rs9462165	0.88[ASW][hapmap];0.93[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470226	0.80[CEU][hapmap]
rs9470229	0.88[ASW][hapmap];0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs9470230	0.88[ASW][hapmap];0.87[CEU][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs9470233	0.83[ASW][hapmap];0.87[CEU][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs9470234	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs9470235	0.87[CEU][hapmap];0.90[EUR][1000 genomes]

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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4236049	MAPK14	cis	cerebellum	SCAN
rs4236049	MAPK13	cis	cerebellum	SCAN
rs4236049	CLPS	cis	parietal	SCAN
rs4236049	ANKS1A	cis	cerebellum	SCAN
rs4236049	KCNK17	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36203800-36220200	Weak transcription	Right Atrium	heart
2	chr6:36209200-36218200	Enhancers	Fetal Intestine Small	intestine
3	chr6:36211200-36218200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:36212200-36218200	Enhancers	Fetal Intestine Large	intestine
5	chr6:36212600-36217000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:36213200-36217000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:36213600-36216800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr6:36214600-36217600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:36214600-36217800	Enhancers	HUVEC	blood vessel
10	chr6:36214800-36217000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:36215000-36218200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:36215200-36217000	Enhancers	Osteobl	bone
13	chr6:36215200-36218000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:36215200-36218000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:36215200-36218200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:36215400-36216800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:36215400-36217200	Enhancers	HMEC	breast
18	chr6:36215400-36217400	Enhancers	NHEK	skin
19	chr6:36215600-36217000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:36215600-36217000	Enhancers	Hela-S3	cervix
21	chr6:36215600-36220200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:36215800-36217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:36215800-36217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:36215800-36217200	Enhancers	HepG2	liver
25	chr6:36215800-36217600	Enhancers	NHDF-Ad	bronchial
26	chr6:36216000-36220000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:36216200-36216800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:36216200-36217000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:36216200-36217600	Enhancers	NHLF	lung
30	chr6:36216400-36217000	Weak transcription	NH-A	brain
31	chr6:36216600-36216800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:36216600-36216800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:36216600-36216800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:36216600-36216800	Enhancers	Fetal Muscle Trunk	muscle
35	chr6:36216600-36216800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:36216600-36217000	Enhancers	Adipose Nuclei	Adipose
37	chr6:36216600-36217000	Enhancers	Aorta	Aorta
38	chr6:36216600-36217000	Enhancers	Ovary	ovary
39	chr6:36216600-36217000	Enhancers	Spleen	Spleen

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