Variant report

Variant	rs1032577
Chromosome Location	chr8:11665959-11665960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:11665596-11666101	H1-hESC	embryonic stem cell:	n/a	chr8:11665842-11665855 chr8:11666033-11666046
2	YY1	chr8:11665581-11666216	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:11665380-11666439	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr8:11665645-11666089	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:11665627-11665965	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:11665486-11666181	GM12892	blood:	n/a	n/a
7	POLR2A	chr8:11665534-11666178	HEK293	kidney:	n/a	n/a
8	POLR2A	chr8:11665391-11666095	U87	brain:	n/a	n/a
9	POLR2A	chr8:11665563-11666050	U87	brain:	n/a	n/a
10	YY1	chr8:11665644-11666078	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:11665635-11666091	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:11664775-11666889	MCF10A-Er-Src	breast:	n/a	n/a
13	YY1	chr8:11665879-11666157	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr8:11665556-11665964	GM12892	blood:	n/a	n/a
15	TAF1	chr8:11665492-11666018	A549	lung:	n/a	n/a
16	POLR2A	chr8:11665604-11665993	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr8:11665396-11666911	PBDE	blood:	n/a	n/a
18	YY1	chr8:11665893-11666192	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr8:11664843-11666654	SK-N-MC	brain:	n/a	n/a
20	MAZ	chr8:11665567-11666022	GM12878	blood:	n/a	n/a
21	ELF1	chr8:11665629-11666353	GM12878	blood:	n/a	n/a
22	NFATC1	chr8:11665360-11666186	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:11665299-11666403	H1-hESC	embryonic stem cell:	n/a	n/a
24	TBP	chr8:11665609-11665985	HepG2	liver:	n/a	n/a
25	POLR2A	chr8:11665411-11666120	HepG2	liver:	n/a	n/a
26	POLR2A	chr8:11665692-11666219	A549	lung:	n/a	n/a
27	POLR2A	chr8:11665569-11666012	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr8:11665583-11666571	A549	lung:	n/a	n/a
29	CCNT2	chr8:11665622-11666304	K562	blood:	n/a	n/a
30	POLR2A	chr8:11665623-11666352	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:11665379-11666492	H1-neurons	neurons:	n/a	n/a
32	RAD21	chr8:11665588-11666190	H1-hESC	embryonic stem cell:	n/a	n/a
33	E2F4	chr8:11665663-11666022	MCF10A-Er-Src	breast:	n/a	n/a
34	HMGN3	chr8:11665958-11666322	K562	blood:	n/a	n/a
35	POLR2A	chr8:11665101-11666490	HepG2	liver:	n/a	n/a
36	HEY1	chr8:11664935-11666824	HepG2	liver:	n/a	chr8:11665851-11665866
37	MXI1	chr8:11665346-11666710	HepG2	liver:	n/a	n/a
38	PAX5	chr8:11665712-11666227	GM12892	blood:	n/a	chr8:11665849-11665868
39	POLR2A	chr8:11665410-11666524	HepG2	liver:	n/a	n/a
40	POLR2A	chr8:11665508-11666015	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr8:11665392-11666606	ECC-1	luminal epithelium:	n/a	n/a
42	FOXP2	chr8:11665669-11666334	PFSK-1	brain:	n/a	n/a
43	MAZ	chr8:11665275-11666823	IMR90	lung:	n/a	chr8:11666615-11666625
44	POLR2A	chr8:11665537-11666113	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr8:11665581-11666609	HL-60	blood:	n/a	n/a
46	POLR2A	chr8:11665240-11666635	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr8:11665697-11666096	ProgFib	skin:	n/a	n/a
48	POLR2A	chr8:11665492-11666177	GM12878	blood:	n/a	n/a
49	TAF7	chr8:11665559-11665975	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr8:11664784-11666154	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:
2	chr8:11658330..11660255-chr8:11664033..11666074,2	MCF-7	breast:
3	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
4	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
5	chr8:11663695..11667740-chr8:11686501..11689379,3	MCF-7	breast:
6	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
7	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:

No data

Variant related genes	Relation type
FDFT1	TF binding region
ENSG00000164733	Chromatin interaction
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000154328	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1032575	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1616534	0.88[EUR][1000 genomes]
rs1619667	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1736057	0.89[EUR][1000 genomes]
rs1736060	0.89[EUR][1000 genomes]
rs1736062	0.83[ASN][1000 genomes]
rs1736067	0.83[ASN][1000 genomes]
rs1736070	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2179010	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2179011	0.84[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
rs1032577	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	chr8:11660800-11666000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:11661000-11667200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:11662600-11667000	Transcr. at gene 5' and 3'	NHEK	skin
8	chr8:11664000-11666000	Weak transcription	Spleen	Spleen
9	chr8:11664200-11666200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:11664200-11666200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:11664200-11669000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:11664400-11666200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:11664400-11666200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:11664400-11666200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:11664600-11666600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:11664800-11666800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:11664800-11667000	Weak transcription	Hela-S3	cervix
18	chr8:11665000-11666000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:11665000-11666200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:11665000-11666200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:11665000-11666400	Active TSS	Brain Germinal Matrix	brain
22	chr8:11665000-11667000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr8:11665000-11667200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr8:11665200-11666200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:11665200-11666200	Active TSS	Right Atrium	heart
26	chr8:11665200-11666600	Active TSS	NHDF-Ad	bronchial
27	chr8:11665200-11666800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:11665200-11667000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr8:11665200-11667200	Active TSS	Ovary	ovary
30	chr8:11665400-11666000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:11665400-11666000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr8:11665400-11666200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:11665400-11666400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:11665400-11666400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr8:11665400-11666400	Active TSS	Small Intestine	intestine
36	chr8:11665400-11666600	Active TSS	Lung	lung
37	chr8:11665400-11666600	Active TSS	A549	lung
38	chr8:11665400-11666800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr8:11665400-11666800	Active TSS	Psoas Muscle	Psoas
40	chr8:11665400-11667000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr8:11665400-11667000	Active TSS	Fetal Brain Female	brain
42	chr8:11665400-11667200	Active TSS	Brain Anterior Caudate	brain
43	chr8:11665400-11667200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:11665600-11666000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:11665600-11666000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:11665600-11666200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:11665600-11666200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:11665600-11666200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:11665600-11666200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr8:11665600-11666200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links