Variant report

Variant	rs2815806
Chromosome Location	chr6:36070955-36070956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36052124..36054923-chr6:36068952..36071940,2	K562	blood:
2	chr6:36069399..36071827-chr6:36084896..36086577,2	K562	blood:
3	chr6:36066380..36072646-chr6:36077457..36080962,6	K562	blood:
4	chr6:36068703..36074391-chr6:36083766..36088093,5	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10484265	0.86[MEX][hapmap]
rs1100856	0.85[EUR][1000 genomes]
rs1100857	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100859	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100860	0.86[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194501	1.00[CHD][hapmap]
rs17655247	0.86[MEX][hapmap]
rs2815809	0.88[MEX][hapmap];0.94[TSI][hapmap]
rs6457879	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707994	1.00[CEU][hapmap];0.90[GIH][hapmap];0.95[TSI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73729674	1.00[ASN][1000 genomes]
rs851004	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851008	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851009	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851011	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851012	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851015	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851016	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851022	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851023	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851025	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs916344	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916345	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916346	0.81[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.86[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2815806	MAPK14	cis	cerebellum	SCAN
rs2815806	SRPK1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36051600-36088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:36051800-36075800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:36052000-36075200	Weak transcription	Right Ventricle	heart
5	chr6:36052200-36071400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:36060200-36075000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:36060600-36071400	Weak transcription	Fetal Brain Female	brain
8	chr6:36060600-36080800	Weak transcription	Ovary	ovary
9	chr6:36060800-36072000	Weak transcription	Brain Germinal Matrix	brain
10	chr6:36063000-36074800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:36063200-36080600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:36063400-36071400	Weak transcription	Fetal Brain Male	brain
13	chr6:36063400-36080600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:36063600-36080800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:36063800-36071000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:36064600-36076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:36065400-36082600	Weak transcription	Stomach Mucosa	stomach
18	chr6:36065600-36075600	Weak transcription	A549	lung
19	chr6:36066600-36071600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr6:36067000-36082800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:36067200-36072800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:36067200-36074200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:36067200-36075000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:36067400-36081000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr6:36067600-36080000	Strong transcription	Dnd41	blood
26	chr6:36067800-36072400	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:36067800-36073800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:36067800-36075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:36067800-36079600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:36068000-36072800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:36068000-36078800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:36068000-36091400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:36068200-36072400	Weak transcription	Brain Substantia Nigra	brain
34	chr6:36068200-36073200	Genic enhancers	Fetal Thymus	thymus
35	chr6:36068200-36076600	Weak transcription	Small Intestine	intestine
36	chr6:36068200-36081200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:36068400-36074000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:36068400-36075200	Weak transcription	HUVEC	blood vessel
39	chr6:36068600-36078000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:36068600-36079600	Strong transcription	HepG2	liver
41	chr6:36068800-36072200	Strong transcription	NH-A	brain
42	chr6:36068800-36072400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:36068800-36072800	Strong transcription	K562	blood
44	chr6:36068800-36079800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:36069000-36072800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:36069000-36072800	Genic enhancers	Thymus	Thymus
47	chr6:36069000-36076200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr6:36069000-36081400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:36069200-36073000	Strong transcription	Fetal Intestine Small	intestine
50	chr6:36069200-36074400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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