Variant report

Variant	rs585257
Chromosome Location	chr1:47140785-47140786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47133631..47136554-chr1:47137710..47141962,4	K562	blood:
2	chr1:47130612..47137538-chr1:47138503..47143012,9	K562	blood:
3	chr1:47134378..47137611-chr1:47139710..47142903,4	MCF-7	breast:

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

Extended variants
information (count: 115 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10158678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10159351	0.95[EUR][1000 genomes]
rs1025806	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs1048351	0.93[EUR][1000 genomes]
rs1048380	0.94[CEU][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs1075982	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs10890411	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs11211338	0.92[EUR][1000 genomes]
rs11211341	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211344	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[EUR][1000 genomes]
rs11211346	0.92[EUR][1000 genomes]
rs1139758	0.90[EUR][1000 genomes]
rs1150064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1150068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11801316	0.92[EUR][1000 genomes]
rs11801419	0.88[EUR][1000 genomes]
rs11804665	0.90[EUR][1000 genomes]
rs12047537	0.89[EUR][1000 genomes]
rs12078635	0.95[EUR][1000 genomes]
rs12082387	0.89[EUR][1000 genomes]
rs12094663	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];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1258000	0.82[EUR][1000 genomes]
rs1258002	0.81[EUR][1000 genomes]
rs1258052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1258053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1258054	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1258056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1258059	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13417	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1440485	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs1440486	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs1440489	0.87[EUR][1000 genomes]
rs1440490	0.84[CEU][hapmap]
rs17102352	0.90[EUR][1000 genomes]
rs17102355	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs17102428	0.94[CEU][hapmap]
rs17102473	0.90[EUR][1000 genomes]
rs1745377	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];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1933933	0.89[EUR][1000 genomes]
rs1962900	0.93[EUR][1000 genomes]
rs1971519	0.89[CEU][hapmap]
rs2083486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2119301	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs2218189	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2241862	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2289446	0.89[EUR][1000 genomes]
rs2289447	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2304745	0.94[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs2405026	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs2405030	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[EUR][1000 genomes]
rs34932727	0.93[EUR][1000 genomes]
rs3737731	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs3766211	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];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3766212	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];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3766214	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[EUR][1000 genomes]
rs3766215	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs3766217	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs3766219	0.83[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[GIH][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes]
rs3766224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4272563	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[EUR][1000 genomes]
rs4274009	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs4301586	0.92[EUR][1000 genomes]
rs4443838	0.89[EUR][1000 genomes]
rs55914029	0.91[EUR][1000 genomes]
rs56319728	0.81[EUR][1000 genomes]
rs58185502	0.87[EUR][1000 genomes]
rs594118	0.91[EUR][1000 genomes]
rs595813	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59881815	0.89[EUR][1000 genomes]
rs60173509	0.89[EUR][1000 genomes]
rs60675294	0.93[EUR][1000 genomes]
rs611468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs614486	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61782563	0.94[EUR][1000 genomes]
rs61782564	0.94[EUR][1000 genomes]
rs61782568	0.93[EUR][1000 genomes]
rs61784001	0.89[EUR][1000 genomes]
rs61784002	0.89[EUR][1000 genomes]
rs61784003	0.92[EUR][1000 genomes]
rs618554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs618878	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs620431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs620913	0.94[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs625507	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs625590	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs637760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs638845	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6429607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6429608	0.87[EUR][1000 genomes]
rs6429609	0.84[EUR][1000 genomes]
rs647999	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];0.87[EUR][1000 genomes]
rs6666405	0.89[EUR][1000 genomes]
rs6667885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6669393	0.90[EUR][1000 genomes]
rs6670495	0.89[CEU][hapmap]
rs6671005	0.94[EUR][1000 genomes]
rs6671124	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];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6688195	0.93[EUR][1000 genomes]
rs723334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs723690	0.89[CEU][hapmap];0.93[GIH][hapmap]
rs732539	0.92[EUR][1000 genomes]
rs7354865	0.94[CEU][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs7354894	0.89[CEU][hapmap]
rs7412469	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs744096	0.94[CEU][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs7519866	0.87[EUR][1000 genomes]
rs7532601	0.95[EUR][1000 genomes]
rs7541868	0.92[EUR][1000 genomes]
rs7553243	0.89[EUR][1000 genomes]
rs8851	0.82[EUR][1000 genomes]
rs946320	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs585257	KIAA0494	cis	cerebellum	SCAN
rs585257	MKNK1	cis	cerebellum	SCAN
rs585257	FAAH	cis	cerebellum	SCAN
rs585257	TCTEX1D4	cis	parietal	SCAN
rs585257	ATPAF1	Cis_1M	lymphoblastoid	RTeQTL
rs585257	RNF220	cis	cerebellum	SCAN
rs585257	NSUN4	cis	cerebellum	SCAN
rs585257	AKR1A1	cis	cerebellum	SCAN
rs585257	GPBP1L1	cis	parietal	SCAN
rs585257	KIAA0494	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47134400-47145800	Weak transcription	Hela-S3	cervix
2	chr1:47134400-47147800	Weak transcription	Small Intestine	intestine
3	chr1:47134600-47140800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:47134600-47141200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:47134600-47141200	Weak transcription	Aorta	Aorta
6	chr1:47134600-47141200	Weak transcription	HepG2	liver
7	chr1:47134600-47141400	Weak transcription	NH-A	brain
8	chr1:47134600-47142600	Weak transcription	HSMMtube	muscle
9	chr1:47134600-47142800	Weak transcription	Ovary	ovary
10	chr1:47134600-47143000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:47134600-47143200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:47134600-47145600	Weak transcription	Fetal Kidney	kidney
13	chr1:47134600-47145800	Weak transcription	Fetal Brain Male	brain
14	chr1:47134600-47147000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:47134600-47147800	Weak transcription	Psoas Muscle	Psoas
16	chr1:47134600-47149200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:47134600-47153000	Weak transcription	Right Atrium	heart
18	chr1:47134600-47157200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:47134800-47141000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:47134800-47141000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:47134800-47141000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:47134800-47141000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:47134800-47141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:47134800-47141000	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:47134800-47141000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:47134800-47141200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:47134800-47141200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:47134800-47141200	Weak transcription	Right Ventricle	heart
29	chr1:47134800-47142800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:47134800-47142800	Weak transcription	Fetal Lung	lung
31	chr1:47134800-47143000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:47134800-47143200	Weak transcription	Brain Angular Gyrus	brain
33	chr1:47134800-47152600	Weak transcription	A549	lung
34	chr1:47135000-47141000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:47135000-47141000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:47135000-47141400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:47135000-47142400	Weak transcription	HMEC	breast
38	chr1:47135000-47145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:47135000-47145400	Weak transcription	Esophagus	oesophagus
40	chr1:47135400-47141000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:47136000-47141000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:47138000-47152000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:47138000-47157800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:47138200-47141000	Strong transcription	Primary T cells from cord blood	blood
45	chr1:47138200-47141000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:47138200-47141000	Strong transcription	Lung	lung
47	chr1:47138200-47141400	Strong transcription	Fetal Stomach	stomach
48	chr1:47138200-47147600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:47138200-47152200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:47138200-47152600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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