Variant report

Variant	rs12076697
Chromosome Location	chr1:153703124-153703125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:153702947-153703678	GM12878	blood:	n/a	n/a
2	EBF1	chr1:153702794-153703953	GM12878	blood:	n/a	chr1:153703804-153703813 chr1:153703804-153703814
3	FOXA1	chr1:153702657-153703172	HepG2	liver:	n/a	n/a
4	SPI1	chr1:153702963-153703212	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:153702370-153703990	GM12878	blood:	n/a	n/a
6	FOXA1	chr1:153702718-153703151	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:153702766-153703166	GM12878	blood:	n/a	n/a
8	TBP	chr1:153702771-153703700	GM12878	blood:	n/a	n/a
9	ZNF384	chr1:153702933-153704176	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:153699859-153703695	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:153702984-153703174	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153701900..153703697-chr1:153706568..153708679,3	MCF-7	breast:
2	chr1:153651404..153652981-chr1:153702351..153704100,2	MCF-7	breast:
3	chr1:153702001..153704367-chr1:153721548..153723803,2	MCF-7	breast:
4	chr1:153698814..153704322-chr1:153719587..153724035,6	MCF-7	breast:
5	chr1:153604905..153607517-chr1:153700319..153703388,3	MCF-7	breast:
6	chr1:153702452..153705443-chr14:91165837..91167426,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199565	TF binding region
ENSG00000143624	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000243613	Chromatin interaction
ENSG00000160679	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11264299	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264336	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1132619	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12062022	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12068901	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12070179	0.94[EUR][1000 genomes]
rs12070559	0.89[EUR][1000 genomes]
rs12071801	0.89[EUR][1000 genomes]
rs12097043	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12097583	0.94[EUR][1000 genomes]
rs28730729	1.00[ASN][1000 genomes]
rs28730731	1.00[ASN][1000 genomes]
rs35240348	1.00[ASN][1000 genomes]
rs36064263	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3891075	1.00[ASN][1000 genomes]
rs4073768	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41265168	1.00[ASN][1000 genomes]
rs41265191	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4845359	1.00[ASN][1000 genomes]
rs55658698	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55778008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167936	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56910871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57314764	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57482283	1.00[ASN][1000 genomes]
rs60100741	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60316596	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60827720	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61803563	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803565	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803566	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803567	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803571	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803573	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61805738	1.00[ASN][1000 genomes]
rs61806710	1.00[ASN][1000 genomes]
rs61806714	1.00[ASN][1000 genomes]
rs61806719	1.00[ASN][1000 genomes]
rs6427085	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660232	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663011	0.89[EUR][1000 genomes]
rs6663988	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668229	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672371	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682411	0.90[EUR][1000 genomes]
rs6687602	0.94[EUR][1000 genomes]
rs6689176	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115713	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7512561	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515716	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520045	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520235	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533987	1.00[ASN][1000 genomes]
rs7556155	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556379	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556575	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8532	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv547928	chr1:153612133-153714252	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2830411	chr1:153613393-153725007	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1067771	chr1:153613593-153724866	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv530052	chr1:153613593-153724866	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1005818	chr1:153613597-153724980	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv535173	chr1:153613597-153724980	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1007835	chr1:153613597-153729959	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv535174	chr1:153613597-153729959	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	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
10	nsv464028	chr1:153622220-153723037	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv547929	chr1:153622220-153723037	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv1001312	chr1:153622834-153724867	Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv535176	chr1:153622834-153724867	Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	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
17	nsv1002328	chr1:153672031-153718746	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Active TSS 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	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12076697	SLC27A3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153700800-153703400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:153701200-153703200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:153701200-153703600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:153701200-153716200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:153701400-153703600	Enhancers	Small Intestine	intestine
6	chr1:153701400-153703800	Enhancers	Stomach Mucosa	stomach
7	chr1:153701400-153704000	Enhancers	Spleen	Spleen
8	chr1:153701400-153712400	Weak transcription	Ovary	ovary
9	chr1:153701600-153703400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:153701600-153705800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:153701600-153712800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:153701800-153703200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:153701800-153703200	Enhancers	Fetal Muscle Leg	muscle
14	chr1:153701800-153703400	Enhancers	Fetal Stomach	stomach
15	chr1:153701800-153703600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:153701800-153704000	Enhancers	Adipose Nuclei	Adipose
17	chr1:153701800-153705000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:153701800-153711400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:153701800-153712800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:153701800-153713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:153701800-153713200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:153702000-153703200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:153702000-153703200	Enhancers	Primary T cells from cord blood	blood
24	chr1:153702000-153703200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:153702000-153703200	Enhancers	Brain Germinal Matrix	brain
26	chr1:153702000-153703200	Weak transcription	Fetal Intestine Large	intestine
27	chr1:153702000-153703200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:153702000-153703200	Enhancers	HUVEC	blood vessel
29	chr1:153702000-153703200	Enhancers	NHDF-Ad	bronchial
30	chr1:153702000-153703400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:153702000-153703400	Weak transcription	Aorta	Aorta
32	chr1:153702000-153703400	Enhancers	Brain Angular Gyrus	brain
33	chr1:153702000-153703400	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:153702000-153703400	Enhancers	Fetal Lung	lung
35	chr1:153702000-153703400	Enhancers	A549	lung
36	chr1:153702000-153703600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:153702000-153703600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:153702000-153703600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:153702000-153703600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:153702000-153703600	Enhancers	Fetal Brain Male	brain
41	chr1:153702000-153703600	Enhancers	K562	blood
42	chr1:153702000-153703800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:153702000-153703800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:153702000-153703800	Enhancers	Brain Anterior Caudate	brain
45	chr1:153702000-153703800	Enhancers	Duodenum Mucosa	Duodenum
46	chr1:153702000-153704000	Enhancers	Fetal Kidney	kidney
47	chr1:153702000-153706400	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:153702000-153706400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:153702000-153709600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:153702000-153711600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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