Variant report

Variant	rs10851868
Chromosome Location	chr15:74316299-74316300
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74303068..74303808-chr15:74316250..74317180,2	MCF-7	breast:
2	chr15:74282640..74284615-chr15:74313984..74316844,2	MCF-7	breast:
3	chr15:74314012..74317004-chr15:74331925..74334688,2	K562	blood:
4	chr15:74310869..74312553-chr15:74315639..74317174,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067221	Chromatin interaction
ENSG00000140464	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10162627	0.94[ASW][hapmap];0.96[CEU][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes]
rs1052242	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052246	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078555	0.80[YRI][hapmap]
rs10851866	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10851867	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11072458	0.81[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs11072461	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11072462	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11072463	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11072464	0.96[CEU][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes]
rs11072465	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11072466	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11072467	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11072469	1.00[CEU][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11633735	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11635930	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11636016	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs11636065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636150	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854321	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11857498	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12442211	0.82[CHB][hapmap];0.80[GIH][hapmap]
rs12592370	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12593528	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12901603	0.82[AMR][1000 genomes]
rs12902857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902945	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904213	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12908748	0.81[AMR][1000 genomes]
rs12910581	0.83[AMR][1000 genomes]
rs12911807	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12911984	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12917179	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1550434	0.88[YRI][hapmap]
rs2165242	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2277599	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2304716	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304717	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2304718	1.00[MEX][hapmap];0.81[MKK][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3784561	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784562	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4287518	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4547288	0.88[ASN][1000 genomes]
rs4886820	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4886844	0.87[ASW][hapmap];1.00[CEU][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4886845	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886846	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56194867	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7183908	0.90[ASN][1000 genomes]
rs734854	0.95[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs743580	0.95[ASN][1000 genomes]
rs752004	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8027327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027774	0.96[CEU][hapmap];0.85[AMR][1000 genomes]
rs8028557	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8038991	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8039276	0.82[AMR][1000 genomes]
rs8039404	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8043489	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs9479	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv518316	chr15:74290993-74331083	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv457203	chr15:74308940-74347723	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv569971	chr15:74308940-74347723	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv510666	chr15:74310738-74394745	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10851868	BBS4	cis	parietal	SCAN
rs10851868	ADPGK	cis	parietal	SCAN
rs10851868	STOML1	cis	parietal	SCAN
rs10851868	CYP11A1	cis	cerebellum	SCAN
rs10851868	STOML1	cis	cerebellum	SCAN
rs10851868	ADPGK	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74288200-74331000	Weak transcription	Fetal Heart	heart
2	chr15:74289800-74331000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:74292000-74329200	Weak transcription	Fetal Brain Male	brain
4	chr15:74300800-74326000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:74302400-74331000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:74303600-74331600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:74304000-74326000	Weak transcription	Fetal Kidney	kidney
8	chr15:74304200-74316800	Weak transcription	Right Atrium	heart
9	chr15:74304400-74323000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:74306000-74322800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr15:74306400-74330600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr15:74307800-74317400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:74308000-74316400	Weak transcription	Small Intestine	intestine
14	chr15:74309200-74322600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr15:74310600-74325000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:74310800-74317000	Strong transcription	Osteobl	bone
17	chr15:74310800-74317200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:74311000-74330400	Strong transcription	GM12878-XiMat	blood
19	chr15:74311200-74323000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:74312000-74324400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:74312200-74328000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:74312800-74317000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:74312800-74330600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:74313000-74321000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr15:74313000-74338600	Strong transcription	Primary T cells from cord blood	blood
26	chr15:74313200-74318600	Genic enhancers	Adipose Nuclei	Adipose
27	chr15:74313200-74320800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr15:74313600-74330000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:74314200-74338200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:74314400-74321200	Strong transcription	Dnd41	blood
31	chr15:74314400-74330400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:74314600-74316400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:74314600-74317000	Strong transcription	Fetal Muscle Leg	muscle
34	chr15:74314600-74318400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:74314600-74318400	Strong transcription	Hela-S3	cervix
36	chr15:74314600-74318600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:74314600-74320400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:74314600-74320600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:74314600-74320800	Strong transcription	Fetal Intestine Small	intestine
40	chr15:74314600-74321200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr15:74314600-74322400	Strong transcription	Fetal Thymus	thymus
42	chr15:74314600-74322800	Strong transcription	Thymus	Thymus
43	chr15:74314600-74330200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:74314600-74330400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:74314600-74338000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:74314800-74316400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:74314800-74316400	Strong transcription	HUVEC	blood vessel
48	chr15:74314800-74317200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:74314800-74317600	Genic enhancers	Right Ventricle	heart
50	chr15:74314800-74318200	Strong transcription	Brain Hippocampus Middle	brain

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