Variant report

Variant	rs489813
Chromosome Location	chr15:49432016-49432017
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	CEBPB	chr15:49431987-49432193	HepG2	liver:	n/a	chr15:49432114-49432123 chr15:49432112-49432125 chr15:49432112-49432123 chr15:49432089-49432101 chr15:49432114-49432125
2	CEBPB	chr15:49431977-49432219	IMR90	lung:	n/a	chr15:49432114-49432123 chr15:49432112-49432125 chr15:49432112-49432123 chr15:49432089-49432101 chr15:49432114-49432125

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49428413..49430191-chr15:49430566..49433388,2	K562	blood:

Variant related genes	Relation type
ENSG00000200120	TF binding region
COPS2	TF binding region
ENSG00000200120	Chromatin interaction
ENSG00000166200	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10467993	0.81[AMR][1000 genomes]
rs1048975	0.89[CHB][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10775139	0.89[CHB][hapmap]
rs10851475	0.84[CHB][hapmap]
rs11070682	0.89[CHB][hapmap]
rs11070683	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11070685	0.87[YRI][hapmap]
rs11070687	0.84[AMR][1000 genomes]
rs11630937	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11632386	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11633810	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11854667	0.80[AMR][1000 genomes]
rs11858114	0.89[CHB][hapmap]
rs12148348	0.85[ASN][1000 genomes]
rs12437486	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12438777	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899761	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12904171	0.80[ASN][1000 genomes]
rs12904344	0.80[CHB][hapmap]
rs12909779	0.83[AMR][1000 genomes]
rs12915792	0.83[YRI][hapmap]
rs16962057	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs16962111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1816293	0.80[AMR][1000 genomes]
rs1864299	0.94[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.98[LWK][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1981995	0.94[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2086256	0.89[CHB][hapmap]
rs2127241	0.89[CHB][hapmap]
rs2127242	0.89[CHB][hapmap]
rs2163095	0.83[AMR][1000 genomes]
rs2163096	0.83[AMR][1000 genomes]
rs2219812	0.89[CHB][hapmap]
rs2244224	0.81[YRI][hapmap]
rs2247003	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2247517	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2263559	0.83[EUR][1000 genomes]
rs2264508	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289390	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2413935	0.89[CHB][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2413941	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2439133	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2457228	0.89[CHB][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2457229	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2580926	0.89[CHB][hapmap]
rs2663088	0.89[CHB][hapmap]
rs2663089	0.89[CHB][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2663091	0.81[YRI][hapmap]
rs28566064	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28653543	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28731311	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2899427	0.89[CHB][hapmap]
rs2899428	0.80[YRI][hapmap]
rs2899430	0.89[CHB][hapmap]
rs2899431	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2940746	0.83[EUR][1000 genomes]
rs3098613	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098619	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098620	0.89[CHB][hapmap]
rs3098621	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3105858	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3105861	0.89[CHB][hapmap]
rs3105864	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3105866	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3907313	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4393519	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4421927	0.83[AMR][1000 genomes]
rs4508377	0.83[AMR][1000 genomes]
rs4774537	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4775801	0.83[YRI][hapmap]
rs481466	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs507054	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs520495	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55736202	0.82[EUR][1000 genomes]
rs568726	0.89[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs577614	0.90[YRI][hapmap]
rs58851861	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs600863	0.89[CHB][hapmap]
rs603868	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs604765	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs609434	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs612803	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs619045	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62009779	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs626295	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs626855	0.89[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs633333	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs647118	0.89[CHB][hapmap]
rs6493356	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493357	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493359	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6493362	0.84[AMR][1000 genomes]
rs66499252	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs672777	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs679957	0.89[CHB][hapmap]
rs685172	0.89[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs694882	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7162602	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7166847	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7168201	0.88[CHB][hapmap];0.87[AMR][1000 genomes]
rs7169443	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7173761	0.80[AMR][1000 genomes]
rs7176697	0.81[YRI][hapmap]
rs7177959	0.81[LWK][hapmap];0.86[YRI][hapmap]
rs7179127	0.94[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.98[LWK][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7179237	0.83[AMR][1000 genomes]
rs7179301	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs754165	0.89[CHB][hapmap]
rs754166	0.89[CHB][hapmap]
rs8024102	0.84[AMR][1000 genomes]
rs8025952	0.89[CHB][hapmap]
rs8031480	0.94[ASW][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs8034956	0.80[AMR][1000 genomes]
rs8039512	0.94[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8039920	0.83[AMR][1000 genomes]
rs8040075	0.89[CHB][hapmap]
rs8040116	0.87[YRI][hapmap]
rs8040134	0.94[ASW][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs8041461	0.84[AMR][1000 genomes]
rs8182081	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs919447	0.94[ASW][hapmap];0.84[CHB][hapmap];0.83[GIH][hapmap];0.98[LWK][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs9806208	0.83[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs489813	COPS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49388800-49434800	Weak transcription	Small Intestine	intestine
2	chr15:49403000-49434600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:49403400-49440200	Weak transcription	Pancreas	Pancrea
4	chr15:49403600-49432200	Weak transcription	Fetal Stomach	stomach
5	chr15:49403600-49435200	Weak transcription	Aorta	Aorta
6	chr15:49403600-49435200	Weak transcription	Gastric	stomach
7	chr15:49403600-49435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:49403800-49433200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:49404800-49434600	Weak transcription	Right Ventricle	heart
10	chr15:49404800-49435000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:49405600-49441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:49411400-49432200	Weak transcription	Fetal Intestine Small	intestine
13	chr15:49413600-49447000	Weak transcription	Stomach Mucosa	stomach
14	chr15:49415200-49433400	Weak transcription	Lung	lung
15	chr15:49415600-49437600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr15:49415800-49437400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:49416200-49437400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr15:49416800-49436800	Strong transcription	Liver	Liver
19	chr15:49416800-49437200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:49417000-49437200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:49417200-49436600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr15:49417200-49437200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:49417200-49437200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:49417200-49437400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:49417200-49437400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:49417400-49437200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:49417600-49437200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:49417600-49437200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr15:49417800-49437200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:49418000-49435800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr15:49418600-49436000	Strong transcription	Fetal Thymus	thymus
32	chr15:49418600-49437600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr15:49418800-49436000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:49418800-49436000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr15:49418800-49436800	Strong transcription	Adipose Nuclei	Adipose
36	chr15:49418800-49437000	Strong transcription	Dnd41	blood
37	chr15:49419000-49437000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:49419000-49445800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:49419200-49437000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:49419400-49435800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr15:49419400-49436400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:49419400-49437000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:49419600-49437000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:49420200-49447000	Weak transcription	Spleen	Spleen
45	chr15:49420400-49447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr15:49421600-49433400	Weak transcription	Left Ventricle	heart
47	chr15:49423200-49434200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:49423400-49437200	Strong transcription	Fetal Intestine Large	intestine
49	chr15:49423800-49433400	Weak transcription	Colonic Mucosa	Colon
50	chr15:49424800-49436400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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