Variant report

Variant	rs3737731
Chromosome Location	chr1:47182206-47182207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47181232..47184030-chr1:47190255..47192173,2	MCF-7	breast:
2	chr1:47157744..47160542-chr1:47181134..47183864,2	MCF-7	breast:
3	chr1:47091302..47093763-chr1:47181587..47183697,2	K562	blood:
4	chr1:47131887..47139340-chr1:47181784..47186573,11	K562	blood:

Variant related genes	Relation type
ENSG00000186118	Chromatin interaction
ENSG00000233647	Chromatin interaction
ENSG00000123472	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10158678	0.94[CEU][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs10159351	0.97[EUR][1000 genomes]
rs1025806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1048351	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1048380	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1075982	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[EUR][1000 genomes]
rs10890411	0.94[CEU][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs11211338	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11211341	0.93[EUR][1000 genomes]
rs11211344	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs11211346	0.94[EUR][1000 genomes]
rs1139758	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1150064	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs1150068	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs11801316	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11801419	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11804665	0.96[EUR][1000 genomes]
rs12047537	0.96[EUR][1000 genomes]
rs12078635	0.97[EUR][1000 genomes]
rs12082387	0.92[EUR][1000 genomes]
rs12094663	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs1258000	0.87[EUR][1000 genomes]
rs1258002	0.81[EUR][1000 genomes]
rs1258003	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1258052	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1258053	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs1258054	0.90[EUR][1000 genomes]
rs1258056	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1258059	0.90[EUR][1000 genomes]
rs13417	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs1440485	0.94[CEU][hapmap]
rs1440486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1440489	0.87[EUR][1000 genomes]
rs1440490	0.89[CEU][hapmap]
rs17102352	0.96[EUR][1000 genomes]
rs17102355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17102428	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs17102473	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1745377	0.94[CEU][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs1933933	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1962900	0.96[EUR][1000 genomes]
rs1971519	0.84[CEU][hapmap]
rs2083486	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs2119301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2218189	0.94[CEU][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs2241862	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs2289446	0.96[EUR][1000 genomes]
rs2289447	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2304745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2405026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2405030	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs34932727	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766211	0.94[CEU][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs3766212	0.94[CEU][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs3766214	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs3766215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766219	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs3766224	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs4272563	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs4274009	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4301586	0.93[CHB][hapmap];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4443838	0.96[EUR][1000 genomes]
rs55914029	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56319728	0.82[EUR][1000 genomes]
rs58185502	0.93[EUR][1000 genomes]
rs585257	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs594118	0.93[EUR][1000 genomes]
rs595813	0.93[EUR][1000 genomes]
rs59881815	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60173509	0.96[EUR][1000 genomes]
rs60675294	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs611468	0.94[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs614486	0.94[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs61782563	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61782564	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61782568	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61782590	0.86[EUR][1000 genomes]
rs61784001	0.96[EUR][1000 genomes]
rs61784002	0.96[EUR][1000 genomes]
rs61784003	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs618554	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs618878	0.80[EUR][1000 genomes]
rs620431	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs620913	0.90[EUR][1000 genomes]
rs625507	0.93[EUR][1000 genomes]
rs625590	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs637760	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs638845	0.94[EUR][1000 genomes]
rs6429607	0.94[CEU][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs6429608	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6429609	0.86[EUR][1000 genomes]
rs647999	0.94[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs6656244	0.85[ASN][1000 genomes]
rs6666405	0.90[EUR][1000 genomes]
rs6667885	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs6669393	0.96[EUR][1000 genomes]
rs6670495	0.84[CEU][hapmap]
rs6671005	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6671124	0.94[CEU][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs6688195	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723334	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs723690	0.84[CEU][hapmap]
rs732539	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7354865	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7354894	0.83[CEU][hapmap]
rs7412469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs744096	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7519866	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7532601	0.97[EUR][1000 genomes]
rs7541868	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7553243	0.91[EUR][1000 genomes]
rs8851	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs946320	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3737731	KIAA0494	Cis_1M	lymphoblastoid	RTeQTL
rs3737731	SLC6A9	cis	parietal	SCAN
rs3737731	FAAH	cis	cerebellum	SCAN
rs3737731	ATPAF1	Cis_1M	lymphoblastoid	RTeQTL
rs3737731	NSUN4	cis	cerebellum	SCAN
rs3737731	CYP4B1	cis	cerebellum	SCAN
rs3737731	MKNK1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47154600-47183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:47159200-47182800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:47160800-47182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:47160800-47182600	Strong transcription	Placenta	Placenta
6	chr1:47161400-47182800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:47164400-47182800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:47166200-47182400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:47166600-47182400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:47166600-47182400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:47166600-47182800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:47166600-47182800	Strong transcription	Fetal Thymus	thymus
13	chr1:47166800-47182400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:47166800-47182600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:47166800-47182800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:47167000-47182400	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:47167000-47182800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:47167200-47182600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:47167600-47183400	Weak transcription	Aorta	Aorta
20	chr1:47171200-47182400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr1:47172200-47183800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:47173000-47182400	Weak transcription	Small Intestine	intestine
23	chr1:47173200-47182800	Weak transcription	Fetal Heart	heart
24	chr1:47173200-47182800	Weak transcription	Psoas Muscle	Psoas
25	chr1:47173400-47182400	Weak transcription	Brain Substantia Nigra	brain
26	chr1:47173400-47182600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:47173400-47182600	Weak transcription	Fetal Brain Male	brain
28	chr1:47176200-47182400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:47176400-47182600	Strong transcription	Brain Hippocampus Middle	brain
30	chr1:47176800-47182800	Strong transcription	Osteobl	bone
31	chr1:47178000-47182400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:47179000-47182600	Enhancers	Stomach Mucosa	stomach
33	chr1:47179000-47182800	Weak transcription	A549	lung
34	chr1:47179800-47182800	Weak transcription	HSMMtube	muscle
35	chr1:47180200-47182600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:47180400-47182400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:47180600-47182400	Strong transcription	NH-A	brain
38	chr1:47180600-47182600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:47180800-47182600	Genic enhancers	NHEK	skin
40	chr1:47181200-47182400	Genic enhancers	Dnd41	blood
41	chr1:47181200-47182600	Genic enhancers	K562	blood
42	chr1:47181200-47182800	Weak transcription	Colonic Mucosa	Colon
43	chr1:47181400-47182400	Weak transcription	Hela-S3	cervix
44	chr1:47181400-47182600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:47181400-47182600	Weak transcription	Fetal Lung	lung
46	chr1:47181400-47182600	Weak transcription	HSMM	muscle
47	chr1:47181400-47182600	Weak transcription	NHLF	lung
48	chr1:47181400-47182800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:47181400-47182800	Weak transcription	Gastric	stomach
50	chr1:47181400-47183200	Weak transcription	H9 Cell Line	embryonic stem cell

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