Variant report

Variant	rs1077215
Chromosome Location	chr3:50708720-50708721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr3:50708587-50709196	U2OS	brain:	n/a	n/a
2	EP300	chr3:50708589-50709244	SK-N-SH	brain:	n/a	chr3:50708982-50708991
3	SP1	chr3:50708688-50709063	A549	lung:	n/a	n/a
4	GATA3	chr3:50708593-50709212	SK-N-SH	brain:	n/a	chr3:50709109-50709118
5	GATA3	chr3:50708561-50709281	SK-N-SH	brain:	n/a	chr3:50709109-50709118
6	FOSL1	chr3:50708580-50709344	HCT-116	colon:	n/a	chr3:50708984-50708991 chr3:50708983-50708991 chr3:50708982-50708992 chr3:50708983-50708991
7	POLR2A	chr3:50708698-50709220	U87	brain:	n/a	n/a
8	NFIC	chr3:50708653-50709114	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr3:50708688-50709155	A549	lung:	n/a	chr3:50708984-50708991 chr3:50708983-50708991 chr3:50708982-50708992 chr3:50708983-50708991
10	MAX	chr3:50708710-50709079	Hela-S3	cervix:	n/a	chr3:50708982-50708991
11	POLR2A	chr3:50708711-50709213	U87	brain:	n/a	n/a
12	TCF12	chr3:50708649-50709316	SK-N-SH	brain:	n/a	n/a
13	KAP1	chr3:50708353-50709450	U2OS	brain:	n/a	chr3:50708984-50708993 chr3:50708699-50708707
14	MAX	chr3:50708720-50709132	Hela-S3	cervix:	n/a	chr3:50708982-50708991
15	RAD21	chr3:50708719-50709122	Hela-S3	cervix:	n/a	n/a
16	NFIC	chr3:50708585-50709244	SK-N-SH	brain:	n/a	n/a
17	JUND	chr3:50708577-50709200	HCT-116	colon:	n/a	chr3:50708984-50708991 chr3:50708983-50708991 chr3:50708982-50708992 chr3:50708983-50708991
18	PBX3	chr3:50708697-50709192	SK-N-SH	brain:	n/a	n/a
19	REST	chr3:50708662-50708948	SK-N-SH	brain:	n/a	n/a
20	KAP1	chr3:50708554-50709335	HEK293	kidney:	n/a	chr3:50708984-50708993 chr3:50708699-50708707
21	JUND	chr3:50708686-50709222	SK-N-SH	brain:	n/a	chr3:50708984-50708991 chr3:50708983-50708991 chr3:50708982-50708992 chr3:50708983-50708991
22	PBX3	chr3:50708603-50709172	SK-N-SH	brain:	n/a	n/a
23	FOSL2	chr3:50708630-50709247	SK-N-SH	brain:	n/a	chr3:50708984-50708991 chr3:50708983-50708991 chr3:50708982-50708992 chr3:50708983-50708991
24	JUND	chr3:50708642-50709227	SK-N-SH	brain:	n/a	chr3:50708984-50708991 chr3:50708983-50708991 chr3:50708982-50708992 chr3:50708983-50708991
25	JUND	chr3:50708673-50709282	HCT-116	colon:	n/a	chr3:50708984-50708991 chr3:50708983-50708991 chr3:50708982-50708992 chr3:50708983-50708991
26	JUN	chr3:50708636-50709171	Hela-S3	cervix:	n/a	chr3:50708984-50708991 chr3:50708983-50708991 chr3:50708982-50708992 chr3:50708983-50708991
27	TCF12	chr3:50708603-50709297	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr3:50708704-50709220	U87	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK3-1	chr3:50708355-50709479	NONHSAT089853
2	lnc-DOCK3-1	chr3:50707420-50709479	ENSG00000273356.1

Variant related genes	Relation type
MIR4787	TF binding region
DOCK3	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1107312	0.85[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap]
rs11712367	0.82[CHD][hapmap]
rs11917538	0.82[CHD][hapmap]
rs12486717	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12486828	0.82[ASN][1000 genomes]
rs12487821	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs12489607	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12490519	0.82[ASN][1000 genomes]
rs12491440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12492093	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12492367	0.82[ASN][1000 genomes]
rs12492540	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12492982	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12494326	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12494776	0.82[ASN][1000 genomes]
rs12495399	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[ASN][1000 genomes]
rs12496601	0.81[ASN][1000 genomes]
rs12497067	0.82[ASN][1000 genomes]
rs17051000	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17051043	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17051045	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17051403	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs17051468	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs175634	0.83[CHD][hapmap]
rs1872184	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1894459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2035484	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs2076927	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2170840	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs2227292	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2227293	0.85[ASN][1000 genomes]
rs2239750	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2239751	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2239752	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2239753	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2285090	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[ASN][1000 genomes]
rs3749265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3752449	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs375544	0.82[CHD][hapmap]
rs3792323	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3792328	0.82[CHD][hapmap]
rs3806706	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs4476497	0.93[ASN][1000 genomes]
rs4485709	0.82[CHD][hapmap]
rs453570	0.81[CHD][hapmap]
rs4640555	0.84[AMR][1000 genomes]
rs4688695	0.81[ASN][1000 genomes]
rs4688696	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs4688705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4688707	0.85[ASN][1000 genomes]
rs4688709	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4688710	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4688715	0.84[AMR][1000 genomes]
rs4688716	0.81[AMR][1000 genomes]
rs56856095	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57591074	1.00[EUR][1000 genomes]
rs57910827	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58427389	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58529408	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59036236	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60552386	0.85[ASN][1000 genomes]
rs60602904	0.84[ASN][1000 genomes]
rs60877431	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61316441	0.85[ASN][1000 genomes]
rs61557316	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs616689	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[ASN][1000 genomes]
rs61676409	0.82[ASN][1000 genomes]
rs6446208	0.95[ASN][1000 genomes]
rs6446212	0.82[CHD][hapmap]
rs6446213	0.82[CHD][hapmap]
rs6446222	0.81[CHD][hapmap]
rs650655	0.91[ASN][1000 genomes]
rs6771348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6779819	0.82[CHD][hapmap]
rs6783922	0.93[ASN][1000 genomes]
rs6794155	1.00[ASN][1000 genomes]
rs6796769	0.82[CHD][hapmap]
rs728902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72942530	0.82[ASN][1000 genomes]
rs72942567	0.82[ASN][1000 genomes]
rs72942785	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72942794	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72944726	0.95[ASN][1000 genomes]
rs72944730	0.95[ASN][1000 genomes]
rs7427526	1.00[EUR][1000 genomes]
rs743753	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs745356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7615703	0.82[CHD][hapmap]
rs762889	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7638082	0.82[CHD][hapmap]
rs808148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs813243	0.82[CHD][hapmap]
rs876103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs876104	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[ASN][1000 genomes]
rs876105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9814874	0.85[CHB][hapmap]
rs9825535	0.82[CHD][hapmap]
rs9868889	0.93[ASN][1000 genomes]
rs9869945	0.82[CHD][hapmap]
rs9875961	0.81[CHD][hapmap]
rs9879397	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1077215	MAPKAPK3	cis	lymphoblastoid	seeQTL
rs1077215	HEMK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50687000-50712000	Weak transcription	Right Atrium	heart
2	chr3:50707200-50708800	Weak transcription	Pancreas	Pancrea
3	chr3:50708400-50708800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:50708400-50709000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:50708400-50709000	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:50708400-50709200	Enhancers	Brain Angular Gyrus	brain
7	chr3:50708400-50709400	Enhancers	HSMMtube	muscle
8	chr3:50708400-50709400	Enhancers	Osteobl	bone
9	chr3:50708400-50709600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:50708400-50709800	Enhancers	Hela-S3	cervix
11	chr3:50708400-50710200	Enhancers	HSMM	muscle
12	chr3:50708600-50708800	Enhancers	Brain Substantia Nigra	brain
13	chr3:50708600-50708800	Bivalent Enhancer	HUVEC	blood vessel
14	chr3:50708600-50709000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:50708600-50709000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:50708600-50709000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:50708600-50709000	Enhancers	Brain Hippocampus Middle	brain
18	chr3:50708600-50709000	Bivalent Enhancer	Fetal Heart	heart
19	chr3:50708600-50709000	Flanking Bivalent TSS/Enh	A549	lung
20	chr3:50708600-50709200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:50708600-50709200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:50708600-50709200	Enhancers	NH-A	brain
23	chr3:50708600-50709200	Enhancers	NHDF-Ad	bronchial
24	chr3:50708600-50709400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links