Variant report

Variant	rs36064263
Chromosome Location	chr1:153748219-153748220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr1:153747452-153748803	ECC-1	luminal epithelium:	n/a	n/a
2	MXI1	chr1:153748097-153748756	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr1:153747375-153748880	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr1:153747728-153748384	GM12878	blood:	n/a	n/a
5	TCF7L2	chr1:153747839-153748772	Hela-S3	cervix:	n/a	n/a
6	RFX5	chr1:153747563-153748816	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:153747472-153748784	ECC-1	luminal epithelium:	n/a	n/a
8	SIN3AK20	chr1:153747275-153749083	MCF-7	breast:	n/a	n/a
9	POLR2A	chr1:153747637-153748769	Hela-S3	cervix:	n/a	n/a
10	CCNT2	chr1:153747738-153748360	K562	blood:	n/a	n/a
11	SIN3AK20	chr1:153747703-153748671	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:153747268-153748826	HL-60	blood:	n/a	n/a
13	NRF1	chr1:153747414-153748854	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr1:153747496-153748695	GM12878	blood:	n/a	n/a
15	MYC	chr1:153748161-153748245	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:153747649-153748748	GM10847	blood:	n/a	n/a
17	ELF1	chr1:153747875-153748391	K562	blood:	n/a	n/a
18	POLR2A	chr1:153747414-153748792	Hela-S3	cervix:	n/a	n/a
19	SIN3A	chr1:153747457-153748845	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:153748088-153748420	GM12878	blood:	n/a	n/a
21	MAX	chr1:153747599-153748714	NB4	blood:	n/a	n/a
22	ELF1	chr1:153747519-153748832	GM12878	blood:	n/a	n/a
23	HA-E2F1	chr1:153747350-153748992	MCF-7	breast:	n/a	n/a
24	BHLHE40	chr1:153747937-153748401	K562	blood:	n/a	n/a
25	MAX	chr1:153747441-153748866	ECC-1	luminal epithelium:	n/a	n/a
26	ELF1	chr1:153747844-153748562	HepG2	liver:	n/a	n/a
27	ELK1	chr1:153747997-153748599	Hela-S3	cervix:	n/a	n/a
28	NR2F2	chr1:153747396-153748687	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:153747594-153748242	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:153747422-153748842	HCT-116	colon:	n/a	n/a
31	POLR2A	chr1:153747387-153748483	GM12892	blood:	n/a	n/a
32	POLR2A	chr1:153747476-153748758	GM12878	blood:	n/a	n/a
33	RAD21	chr1:153748136-153748853	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZBTB7A	chr1:153747962-153748868	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr1:153747996-153748717	A549	lung:	n/a	n/a
36	BRCA1	chr1:153748078-153748292	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:153745735-153749410	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:153747869-153748257	GM12891	blood:	n/a	n/a
39	SIN3AK20	chr1:153747436-153748652	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr1:153747538-153748772	HUVEC	blood vessel:	n/a	n/a
41	HA-E2F1	chr1:153747518-153748830	Hela-S3	cervix:	n/a	n/a
42	MYC	chr1:153747645-153748679	MCF-7	breast:	n/a	n/a
43	SRF	chr1:153747995-153748930	MCF-7	breast:	n/a	n/a
44	POLR2A	chr1:153746698-153748795	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:153747363-153748800	HUVEC	blood vessel:	n/a	n/a
46	YY1	chr1:153747528-153748450	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr1:153747461-153748941	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:153747523-153748792	GM19099	blood:	n/a	n/a
49	PML	chr1:153747482-153748365	MCF-7	breast:	n/a	n/a
50	MYC	chr1:153747661-153748366	MCF-7	breast:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153651880..153654749-chr1:153747881..153749756,2	MCF-7	breast:
2	chr1:153747034..153749819-chr1:153917632..153921416,5	MCF-7	breast:
3	chr1:153747638..153749537-chr17:79008974..79011275,2	MCF-7	breast:
4	chr1:153721868..153723667-chr1:153746625..153749637,3	MCF-7	breast:
5	chr1:153746879..153748867-chr1:153894033..153896594,2	K562	blood:
6	chr1:153537152..153539160-chr1:153746062..153748854,2	MCF-7	breast:
7	chr1:153604928..153608647-chr1:153747112..153750594,4	MCF-7	breast:
8	chr1:153648500..153651688-chr1:153746725..153749419,3	MCF-7	breast:
9	chr1:153747107..153752136-chr1:153929206..153936862,9	MCF-7	breast:
10	chr1:153580088..153583370-chr1:153747776..153750328,4	MCF-7	breast:
11	chr1:153729430..153731095-chr1:153746987..153749795,2	MCF-7	breast:
12	chr1:153642143..153644918-chr1:153747497..153749679,4	MCF-7	breast:
13	chr1:153747289..153750894-chr1:153961895..153964874,3	MCF-7	breast:
14	chr1:153746887..153748770-chr1:153957005..153959457,3	MCF-7	breast:
15	chr1:153745179..153749280-chr1:153961747..153968478,7	MCF-7	breast:
16	chr1:153742918..153749628-chr1:153933334..153942122,16	MCF-7	breast:
17	chr1:153641872..153644049-chr1:153747164..153750461,3	MCF-7	breast:
18	chr1:153747310..153750060-chr1:153937716..153939765,3	MCF-7	breast:
19	chr1:153747624..153749302-chr1:153940489..153942860,2	MCF-7	breast:
20	chr1:153605481..153608017-chr1:153747130..153748871,2	MCF-7	breast:
21	chr1:153599154..153601344-chr1:153747056..153749212,2	MCF-7	breast:
22	chr1:153747328..153749259-chr1:153765897..153767702,2	MCF-7	breast:
23	chr1:153748212..153751120-chr1:153917241..153919108,2	K562	blood:
24	chr1:153732136..153734221-chr1:153747059..153748574,2	MCF-7	breast:
25	chr1:153720924..153726415-chr1:153745287..153750957,9	MCF-7	breast:
26	chr1:153747168..153749563-chr1:153948647..153951323,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLC27A3	TF binding region
ENSG00000160679	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000143545	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000243613	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000175866	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000233222	Chromatin interaction
ENSG00000143614	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000231827	Chromatin interaction
ENSG00000169418	Chromatin interaction
ENSG00000160741	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000231416	Chromatin interaction
ENSG00000272030	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11264299	0.90[EUR][1000 genomes]
rs11264336	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1132619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062022	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12068901	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12070179	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12070559	0.98[EUR][1000 genomes]
rs12071801	0.98[EUR][1000 genomes]
rs12076697	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12097043	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12097583	0.96[EUR][1000 genomes]
rs4073768	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41265191	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55658698	0.90[EUR][1000 genomes]
rs55778008	0.90[EUR][1000 genomes]
rs56167936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56910871	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60100741	0.81[EUR][1000 genomes]
rs60316596	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60827720	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61803563	0.90[EUR][1000 genomes]
rs61803565	0.90[EUR][1000 genomes]
rs61803566	0.85[EUR][1000 genomes]
rs61803567	0.94[EUR][1000 genomes]
rs61803571	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61803573	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6427085	0.87[EUR][1000 genomes]
rs6660232	0.81[EUR][1000 genomes]
rs6663011	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663988	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6672371	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682411	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6687602	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6689176	0.90[EUR][1000 genomes]
rs74115713	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7512561	0.81[EUR][1000 genomes]
rs7515716	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7520045	0.81[EUR][1000 genomes]
rs7556155	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7556379	0.81[EUR][1000 genomes]
rs7556575	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
4	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv464039	chr1:153708906-153801098	Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv547941	chr1:153708906-153801098	Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv817392	chr1:153724807-153870005	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36064263	SLC27A3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153712800-153751800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:153730800-153752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:153747000-153749200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:153747000-153750400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr1:153747000-153755400	Weak transcription	Dnd41	blood
6	chr1:153747200-153748600	Active TSS	Brain Anterior Caudate	brain
7	chr1:153747200-153748800	Active TSS	Rectal Smooth Muscle	rectum
8	chr1:153747200-153749000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:153747200-153749200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:153747200-153749200	Flanking Active TSS	Liver	Liver
11	chr1:153747200-153750600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:153747400-153748400	Active TSS	Brain Germinal Matrix	brain
13	chr1:153747400-153748400	Flanking Active TSS	Pancreas	Pancrea
14	chr1:153747400-153748800	Active TSS	Fetal Brain Female	brain
15	chr1:153747400-153748800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr1:153747400-153749000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:153747400-153749000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr1:153747400-153749000	Active TSS	Primary T cells from cord blood	blood
19	chr1:153747400-153749000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:153747400-153749000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:153747400-153749000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:153747400-153749000	Active TSS	Fetal Kidney	kidney
23	chr1:153747400-153749000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:153747400-153749000	Active TSS	Ovary	ovary
25	chr1:153747400-153749000	Active TSS	Right Atrium	heart
26	chr1:153747400-153749200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:153747400-153749200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:153747400-153749200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr1:153747400-153749200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:153747400-153749200	Flanking Active TSS	HMEC	breast
31	chr1:153747400-153749400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:153747400-153749800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:153747600-153748400	Active TSS	Brain Cingulate Gyrus	brain
34	chr1:153747600-153748400	Active TSS	Gastric	stomach
35	chr1:153747600-153748600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr1:153747600-153748600	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:153747600-153748600	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr1:153747600-153748600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr1:153747600-153748600	Active TSS	Esophagus	oesophagus
40	chr1:153747600-153748600	Active TSS	Fetal Intestine Large	intestine
41	chr1:153747600-153748600	Active TSS	Fetal Intestine Small	intestine
42	chr1:153747600-153748600	Active TSS	Thymus	Thymus
43	chr1:153747600-153748600	Active TSS	Hela-S3	cervix
44	chr1:153747600-153748600	Active TSS	K562	blood
45	chr1:153747600-153748800	Active TSS	H1 Cell Line	embryonic stem cell
46	chr1:153747600-153748800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:153747600-153748800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:153747600-153748800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:153747600-153748800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr1:153747600-153748800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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