Variant report

Variant	rs13274504
Chromosome Location	chr8:104164831-104164832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr8:104164368-104164832	GM12878	blood:	n/a	n/a
2	JUN	chr8:104164222-104164887	HUVEC	blood vessel:	n/a	n/a
3	REST	chr8:104164179-104164917	PFSK-1	brain:	n/a	n/a
4	FOXP2	chr8:104164046-104164835	PFSK-1	brain:	n/a	n/a
5	FOXP2	chr8:104164139-104165104	PFSK-1	brain:	n/a	n/a
6	SIN3AK20	chr8:104164214-104164843	PFSK-1	brain:	n/a	n/a
7	FOXA2	chr8:104164389-104164857	A549	lung:	n/a	n/a
8	SIN3AK20	chr8:104164292-104164852	PFSK-1	brain:	n/a	n/a
9	MAX	chr8:104164186-104164851	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr8:104164155-104164954	PFSK-1	brain:	n/a	n/a
11	REST	chr8:104164261-104164884	PFSK-1	brain:	n/a	n/a
12	MAX	chr8:104164298-104164847	NB4	blood:	n/a	n/a
13	EBF1	chr8:104164306-104164881	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:104164198-104165012	HUVEC	blood vessel:	n/a	n/a
15	MXI1	chr8:104164192-104164900	IMR90	lung:	n/a	n/a
16	CTCF	chr8:104164780-104164930	GM12874	blood:	n/a	n/a
17	GATA2	chr8:104164341-104165026	HUVEC	blood vessel:	n/a	n/a
18	TAF1	chr8:104164145-104164894	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr8:104164069-104165031	PFSK-1	brain:	n/a	n/a
20	FOS	chr8:104164286-104165508	HUVEC	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104164036..104165922-chr8:104166497..104168627,2	MCF-7	breast:
2	chr8:104164158..104164912-chr8:104385376..104386427,3	MCF-7	breast:
3	chr8:104153176..104156099-chr8:104164228..104166566,2	MCF-7	breast:

No data

Variant related genes	Relation type
BAALC	TF binding region
MIR3151	TF binding region
ENSG00000265657	Chromatin interaction
ENSG00000236939	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10088491	0.98[ASN][1000 genomes]
rs10955310	0.89[ASN][1000 genomes]
rs12056711	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12545903	0.96[ASN][1000 genomes]
rs13259545	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13264626	0.97[ASN][1000 genomes]
rs1494276	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1497449	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1845430	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1976326	0.80[ASN][1000 genomes]
rs2132867	0.80[ASN][1000 genomes]
rs2249240	0.80[ASN][1000 genomes]
rs2249256	0.81[ASN][1000 genomes]
rs2454001	0.80[ASN][1000 genomes]
rs2454002	0.80[ASN][1000 genomes]
rs2454004	0.80[ASN][1000 genomes]
rs2515181	0.80[ASN][1000 genomes]
rs2515190	0.86[ASN][1000 genomes]
rs2515191	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2935579	0.86[ASN][1000 genomes]
rs4734071	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4734689	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4734690	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61274078	0.96[ASN][1000 genomes]
rs7001897	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7014418	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72507596	0.96[ASN][1000 genomes]
rs72671377	0.96[ASN][1000 genomes]
rs991312	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:104155600-104165400	Genic enhancers	Primary hematopoietic stem cells	blood
3	chr8:104159800-104166200	Enhancers	Brain Cingulate Gyrus	brain
4	chr8:104161600-104166200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:104162000-104165600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:104162000-104168000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:104162400-104166200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:104162400-104169000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:104162600-104165600	Enhancers	Adipose Nuclei	Adipose
10	chr8:104162600-104166000	Enhancers	Left Ventricle	heart
11	chr8:104162600-104166800	Enhancers	Brain Substantia Nigra	brain
12	chr8:104162800-104165400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104162800-104165600	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:104162800-104166000	Enhancers	HUVEC	blood vessel
15	chr8:104162800-104166200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:104162800-104172600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:104163000-104165200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:104163000-104165600	Enhancers	Fetal Stomach	stomach
19	chr8:104163400-104165000	Enhancers	Right Atrium	heart
20	chr8:104163400-104165400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:104163400-104166200	Enhancers	Spleen	Spleen
22	chr8:104163600-104165000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:104163600-104165000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:104163600-104165000	Enhancers	Lung	lung
25	chr8:104163600-104165200	Enhancers	Primary B cells from cord blood	blood
26	chr8:104163600-104166600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:104163800-104165200	Enhancers	Fetal Thymus	thymus
28	chr8:104163800-104165400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:104164000-104165000	Enhancers	NHDF-Ad	bronchial
30	chr8:104164000-104166000	Enhancers	Brain Germinal Matrix	brain
31	chr8:104164000-104166600	Enhancers	Fetal Brain Male	brain
32	chr8:104164200-104165000	Enhancers	GM12878-XiMat	blood
33	chr8:104164200-104165000	Enhancers	Osteobl	bone
34	chr8:104164200-104165400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:104164200-104165400	Enhancers	NHLF	lung
36	chr8:104164200-104168000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr8:104164400-104165000	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr8:104164400-104165200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr8:104164400-104165800	Enhancers	Brain Anterior Caudate	brain
40	chr8:104164600-104165000	Bivalent Enhancer	HepG2	liver
41	chr8:104164600-104165200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:104164600-104165400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
43	chr8:104164600-104165800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:104164600-104165800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:104164600-104168200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:104164600-104168600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:104164600-104169200	Enhancers	Brain Hippocampus Middle	brain
48	chr8:104164800-104165200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:104164800-104165800	Weak transcription	HSMM	muscle
50	chr8:104164800-104166000	Weak transcription	Muscle Satellite Cultured Cells	--

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