Variant report

Variant	rs816748
Chromosome Location	chr5:154274692-154274693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:154134592..154137330-chr5:154274091..154276299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155506	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10042134	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233077	0.88[ASN][1000 genomes]
rs13181649	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390598	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs164192	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164193	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164194	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164196	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164197	1.00[AMR][1000 genomes]
rs164198	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs164199	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17116671	1.00[CEU][hapmap]
rs17570361	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs180903	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184703	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs185323	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186998	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs189439	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059045	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112219	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2112220	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs2112222	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544827	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2544862	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544870	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544871	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2544872	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544873	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544877	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544881	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544882	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544883	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2544885	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2544887	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs255530	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560069	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644745	1.00[ASN][1000 genomes]
rs2644747	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2644748	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2688183	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688185	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688192	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688202	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688209	1.00[ASN][1000 genomes]
rs32426	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346572	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346573	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348734	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348736	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348737	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348738	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348740	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs348746	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348753	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs348755	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs348758	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776982	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs39615	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs39953	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs40584	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958393	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958769	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958770	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958772	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4958774	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59025588	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59919514	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60476447	1.00[ASN][1000 genomes]
rs60906140	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61511229	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61554631	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6580117	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580118	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580119	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580121	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879093	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs702743	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276745	1.00[ASN][1000 genomes]
rs73276760	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73276766	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73276769	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73276780	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73278805	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278819	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278843	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280717	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73280724	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73280726	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73280747	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73280749	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73280750	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73280761	0.82[EUR][1000 genomes]
rs73280762	0.82[EUR][1000 genomes]
rs73280768	0.82[EUR][1000 genomes]
rs7720521	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7720538	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733367	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816715	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816716	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs816724	0.86[EUR][1000 genomes]
rs816733	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816736	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816737	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816738	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816739	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816740	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816741	0.81[AMR][1000 genomes]
rs816742	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816744	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816745	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816746	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863650	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs816748	CYP1B1	trans	brain	seeQTL
rs816748	GAS1	trans	brain	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154262800-154300800	Strong transcription	Fetal Brain Female	brain
2	chr5:154264000-154276600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:154264000-154312800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:154264200-154275600	Strong transcription	Brain Anterior Caudate	brain
5	chr5:154265200-154276400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:154265200-154278000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr5:154265200-154279800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:154266000-154275800	Strong transcription	Brain Cingulate Gyrus	brain
9	chr5:154266200-154276400	Strong transcription	Brain Hippocampus Middle	brain
10	chr5:154266200-154285000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:154266200-154287600	Strong transcription	HepG2	liver
12	chr5:154266200-154288800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:154266200-154312200	Strong transcription	Fetal Thymus	thymus
14	chr5:154266200-154316600	Weak transcription	Stomach Mucosa	stomach
15	chr5:154266400-154278200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:154266400-154278800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr5:154266400-154293600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:154266400-154311200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:154266400-154312800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:154266400-154315600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:154266600-154276200	Strong transcription	Brain Substantia Nigra	brain
22	chr5:154266600-154276800	Strong transcription	GM12878-XiMat	blood
23	chr5:154266600-154282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:154266600-154283600	Strong transcription	K562	blood
25	chr5:154266600-154284200	Strong transcription	Brain Germinal Matrix	brain
26	chr5:154266600-154285000	Strong transcription	Thymus	Thymus
27	chr5:154266600-154292600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:154266600-154292800	Strong transcription	Left Ventricle	heart
29	chr5:154266600-154293000	Strong transcription	Dnd41	blood
30	chr5:154266600-154293200	Strong transcription	Placenta	Placenta
31	chr5:154266600-154294600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:154266600-154312800	Strong transcription	Fetal Intestine Large	intestine
33	chr5:154266600-154313200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:154266600-154313600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:154266800-154278800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:154266800-154285200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr5:154266800-154293000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:154266800-154293600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr5:154267000-154293600	Strong transcription	Primary T cells from cord blood	blood
40	chr5:154267000-154294400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:154267000-154304400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:154267000-154312800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr5:154267200-154287400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:154267200-154293000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:154267200-154311800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:154267200-154312800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr5:154267400-154276000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:154267400-154299000	Strong transcription	Fetal Stomach	stomach
49	chr5:154267600-154278800	Strong transcription	Liver	Liver
50	chr5:154267600-154279000	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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