Variant report

Variant	rs1736060
Chromosome Location	chr8:11664738-11664739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11664660-11665035	K562	blood:	n/a	n/a
2	POLR2A	chr8:11659475-11672720	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11664728-11664778	HCPEpiC	choroid plexus:	n/a
2	chr8:11664728-11664778	NHBE	bronchial:	n/a
3	chr8:11664728-11664778	NB4	blood:	n/a
4	chr8:11664728-11664778	K562	blood:	n/a
5	chr8:11664728-11664778	MCF-7	breast:	n/a
6	chr8:11664728-11664778	AoSMC	blood vessel:	n/a
7	chr8:11664728-11664778	H1-hESC	embryonic stem cell:	embryo
8	chr8:11664728-11664778	AG10803	skin:	n/a
9	chr8:11664728-11664778	HRPEpiC	eye:	n/a
10	chr8:11664728-11664778	PrEC	prostate:	n/a
11	chr8:11664728-11664778	HEEpiC	esophagus:	n/a
12	chr8:11664728-11664778	HPAEpiC	pulmonary alveolar:	n/a
13	chr8:11664728-11664778	PANC-1	pancreas:	n/a
14	chr8:11664728-11664778	NH-A	brain:	n/a
15	chr8:11664728-11664778	HL-60	blood:	n/a
16	chr8:11664728-11664778	GM12892	blood:	n/a
17	chr8:11664728-11664778	GM06990	blood:	n/a
18	chr8:11664728-11664778	T-47D	breast:	n/a
19	chr8:11664728-11664778	HCT-116	colon:	n/a
20	chr8:11664728-11664778	AG04450	lung:	fetal
21	chr8:11664728-11664778	SK-N-MC	brain:	n/a
22	chr8:11664728-11664778	Hepatocyte	liver:	n/a
23	chr8:11664728-11664778	Jurkat	blood:	n/a
24	chr8:11664728-11664778	HIPEpiC	eye:	n/a
25	chr8:11664728-11664778	IMR90	lung:	fetal
26	chr8:11664728-11664778	PFSK-1	brain:	n/a
27	chr8:11664728-11664778	RPTEC	kidney:	n/a
28	chr8:11664728-11664778	Hela-S3	cervix:	n/a
29	chr8:11664728-11664778	HMEC	breast:	n/a
30	chr8:11664728-11664778	GM19239	blood:	n/a
31	chr8:11664728-11664778	MCF10A-Er-Src	breast:	n/a
32	chr8:11664728-11664778	LNCaP	prostate:	n/a
33	chr8:11664728-11664778	HEK293	kidney:	embryo
34	chr8:11664728-11664778	SK-N-SH	brain:	n/a
35	chr8:11664728-11664778	NT2-D1	testis:	n/a
36	chr8:11664728-11664778	HepG2	liver:	n/a
37	chr8:11664728-11664778	ECC-1	luminal epithelium:	n/a
38	chr8:11664728-11664778	ovcar-3	ovarian:	n/a
39	chr8:11664728-11664778	A549	lung:	n/a
40	chr8:11664728-11664778	HRE	kidney:	n/a
41	chr8:11664728-11664778	HUVEC	blood vessel:	n/a
42	chr8:11664728-11664778	CMK	blood:	n/a
43	chr8:11664728-11664778	HAEpiC	amniotic membrane:	n/a
44	chr8:11664728-11664778	HNPCEpiC	eye:	n/a
45	chr8:11664728-11664778	Caco-2	colon:	n/a
46	chr8:11664728-11664778	BE2_C	brain:	n/a
47	chr8:11664728-11664778	ProgFib	skin:	n/a
48	chr8:11664728-11664778	SK-N-SH_RA	brain:	n/a
49	chr8:11664728-11664778	NHDF-neo	bronchial:	n/a
50	chr8:11664728-11664778	SKMC	muscle:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:
2	chr8:11662566..11665636-chr8:11705504..11707081,3	K562	blood:
3	chr8:11658330..11660255-chr8:11664033..11666074,2	MCF-7	breast:
4	chr8:11662199..11664746-chr8:11796348..11798802,2	K562	blood:
5	chr8:11663695..11667740-chr8:11686501..11689379,3	MCF-7	breast:
6	chr8:11618295..11620623-chr8:11664020..11665628,2	K562	blood:
7	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
8	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:
9	chr8:11662802..11665653-chr8:11685244..11688002,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255046	TF binding region
FDFT1	TF binding region
ENSG00000255046	CpG island
FDFT1	CpG island
ENSG00000164733	Chromatin interaction
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000255394	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1032575	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1032577	0.89[EUR][1000 genomes]
rs1497042	0.83[ASN][1000 genomes]
rs1616534	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1619667	0.91[EUR][1000 genomes]
rs1736057	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1736062	0.82[ASN][1000 genomes]
rs1736067	0.82[ASN][1000 genomes]
rs2179010	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2179011	0.83[ASN][1000 genomes]
rs2252567	0.85[ASN][1000 genomes]
rs3824114	0.87[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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1736060	FDFT1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11658400-11666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr8:11660800-11665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:11660800-11666000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11661000-11667200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:11661200-11665400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:11661200-11665400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:11661400-11664800	Weak transcription	Right Ventricle	heart
9	chr8:11661400-11665400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:11661400-11665400	Weak transcription	Aorta	Aorta
11	chr8:11661600-11665200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:11661600-11665600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:11661800-11665000	Enhancers	Brain Anterior Caudate	brain
14	chr8:11661800-11665000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:11661800-11665400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:11662000-11664800	Weak transcription	Fetal Intestine Small	intestine
17	chr8:11662000-11665000	Enhancers	Liver	Liver
18	chr8:11662000-11665200	Weak transcription	Fetal Intestine Large	intestine
19	chr8:11662000-11665200	Weak transcription	Fetal Kidney	kidney
20	chr8:11662000-11665400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:11662000-11665400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr8:11662000-11665400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:11662000-11665400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr8:11662000-11665400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:11662000-11665400	Weak transcription	HSMM	muscle
26	chr8:11662200-11665200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:11662200-11665400	Enhancers	Primary B cells from cord blood	blood
28	chr8:11662400-11665800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr8:11662400-11665800	Flanking Active TSS	HUVEC	blood vessel
30	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
31	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:11662600-11664800	Weak transcription	Left Ventricle	heart
33	chr8:11662600-11664800	Transcr. at gene 5' and 3'	HMEC	breast
34	chr8:11662600-11665000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:11662600-11665200	Weak transcription	Right Atrium	heart
36	chr8:11662600-11665400	Weak transcription	Gastric	stomach
37	chr8:11662600-11665400	Enhancers	Small Intestine	intestine
38	chr8:11662600-11667000	Transcr. at gene 5' and 3'	NHEK	skin
39	chr8:11663000-11664800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:11663200-11665200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:11663200-11665600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:11663400-11665400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr8:11663600-11665000	Active TSS	Fetal Brain Female	brain
44	chr8:11663600-11665000	Enhancers	A549	lung
45	chr8:11663600-11665400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr8:11663800-11664800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:11663800-11665000	Enhancers	Fetal Heart	heart
48	chr8:11663800-11665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:11663800-11665400	Weak transcription	Esophagus	oesophagus
50	chr8:11663800-11665400	Enhancers	Fetal Stomach	stomach

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