Variant report

Variant	rs1736057
Chromosome Location	chr8:11665217-11665218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:11665207-11665239	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:11665032-11665225	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr8:11665162-11665954	HepG2	liver:	n/a	n/a
4	REST	chr8:11665125-11665935	A549	lung:	n/a	n/a
5	POLR2A	chr8:11664775-11666889	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr8:11665040-11665342	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:11664843-11666654	SK-N-MC	brain:	n/a	n/a
8	YY1	chr8:11665097-11665538	HepG2	liver:	n/a	n/a
9	FOXA2	chr8:11664930-11665352	A549	lung:	n/a	n/a
10	YY1	chr8:11665121-11665594	SK-N-SH_RA	brain:	n/a	n/a
11	FOXA2	chr8:11665001-11665303	HepG2	liver:	n/a	n/a
12	POLR2A	chr8:11665101-11666490	HepG2	liver:	n/a	n/a
13	HEY1	chr8:11664935-11666824	HepG2	liver:	n/a	chr8:11665851-11665866
14	FOXA1	chr8:11665010-11665408	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:11665104-11665330	HepG2	liver:	n/a	n/a
16	FOXA1	chr8:11665000-11665361	HepG2	liver:	n/a	n/a
17	POLR2A	chr8:11664784-11666154	HepG2	liver:	n/a	n/a
18	FOXA1	chr8:11664948-11665324	HepG2	liver:	n/a	n/a
19	POLR2A	chr8:11659475-11672720	K562	blood:	n/a	n/a
20	PML	chr8:11664765-11665899	K562	blood:	n/a	n/a
21	MXI1	chr8:11664826-11667052	SK-N-SH	brain:	n/a	n/a
22	KAP1	chr8:11665142-11665800	HEK293	kidney:	n/a	n/a
23	MYC	chr8:11665023-11665487	MCF10A-Er-Src	breast:	n/a	n/a
24	REST	chr8:11664977-11666433	H1-neurons	neurons:	n/a	chr8:11666074-11666088 chr8:11666042-11666062
25	ZNF263	chr8:11664943-11666666	HEK293-T-REx	kidney:	n/a	chr8:11665843-11665852
26	POLR2A	chr8:11664833-11666016	HL-60	blood:	n/a	n/a

No data

(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	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
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
FDFT1	TF binding region
ENSG00000255046	Chromatin interaction
ENSG00000255394	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000154328	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1032575	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1032577	0.89[EUR][1000 genomes]
rs1497042	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1616534	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1619667	0.92[EUR][1000 genomes]
rs1736060	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1736062	0.83[ASN][1000 genomes]
rs1736067	0.83[ASN][1000 genomes]
rs1736070	0.81[ASN][1000 genomes]
rs2179010	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2179011	0.84[ASN][1000 genomes]
rs2252567	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3824114	0.89[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
rs1736057	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	chr8:11661400-11665400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:11661400-11665400	Weak transcription	Aorta	Aorta
10	chr8:11661600-11665600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:11661800-11665400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr8:11662000-11665400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:11662000-11665400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:11662000-11665400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:11662000-11665400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:11662000-11665400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:11662000-11665400	Weak transcription	HSMM	muscle
18	chr8:11662200-11665400	Enhancers	Primary B cells from cord blood	blood
19	chr8:11662400-11665800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr8:11662400-11665800	Flanking Active TSS	HUVEC	blood vessel
21	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
22	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:11662600-11665400	Weak transcription	Gastric	stomach
24	chr8:11662600-11665400	Enhancers	Small Intestine	intestine
25	chr8:11662600-11667000	Transcr. at gene 5' and 3'	NHEK	skin
26	chr8:11663200-11665600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:11663400-11665400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:11663600-11665400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:11663800-11665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:11663800-11665400	Weak transcription	Esophagus	oesophagus
31	chr8:11663800-11665400	Enhancers	Fetal Stomach	stomach
32	chr8:11663800-11665800	Bivalent/Poised TSS	HepG2	liver
33	chr8:11664000-11665400	Enhancers	Osteobl	bone
34	chr8:11664000-11665800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr8:11664000-11666000	Weak transcription	Spleen	Spleen
36	chr8:11664200-11665400	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:11664200-11665400	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:11664200-11665400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:11664200-11665400	Enhancers	Colonic Mucosa	Colon
40	chr8:11664200-11665400	Weak transcription	Lung	lung
41	chr8:11664200-11665400	Weak transcription	Pancreas	Pancrea
42	chr8:11664200-11665400	Weak transcription	Psoas Muscle	Psoas
43	chr8:11664200-11665400	Enhancers	Stomach Mucosa	stomach
44	chr8:11664200-11665600	Enhancers	Thymus	Thymus
45	chr8:11664200-11665800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:11664200-11666200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr8:11664200-11666200	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr8:11664200-11669000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:11664400-11665400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:11664400-11665400	Enhancers	Fetal Muscle Leg	muscle

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