Variant report

Variant	rs17714871
Chromosome Location	chr13:76451477-76451478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:76451371-76451525	ProgFib	skin:	n/a	n/a
2	JUND	chr13:76451460-76451623	H1-hESC	embryonic stem cell:	n/a	n/a
3	SMC3	chr13:76450142-76451486	SK-N-SH	brain:	n/a	chr13:76450712-76450726 chr13:76450402-76450412 chr13:76450398-76450412
4	RAD21	chr13:76450079-76451484	SK-N-SH	brain:	n/a	chr13:76450402-76450412 chr13:76450400-76450413 chr13:76451175-76451187 chr13:76450711-76450730
5	CTCF	chr13:76451340-76451490	GM06990	blood:	n/a	n/a
6	CTCF	chr13:76451420-76451570	GM12867	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000223458	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10507836	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10507837	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10507838	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12869260	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1318553	0.95[EUR][1000 genomes]
rs17065177	0.98[EUR][1000 genomes]
rs17657837	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17713028	0.88[EUR][1000 genomes]
rs34440314	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34674775	0.95[EUR][1000 genomes]
rs34832254	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34897927	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34902046	0.95[EUR][1000 genomes]
rs34959967	0.95[EUR][1000 genomes]
rs34973043	0.95[EUR][1000 genomes]
rs35254061	0.91[EUR][1000 genomes]
rs617686	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs625033	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs71434812	0.95[EUR][1000 genomes]
rs71434813	0.96[EUR][1000 genomes]
rs71434814	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71434815	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs727020	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7988661	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7988841	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7991366	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7993408	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7997504	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7997894	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9600584	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9600585	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9600586	0.86[AMR][1000 genomes];0.96[EUR][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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76440000-76469200	Weak transcription	HSMM	muscle
2	chr13:76445400-76454400	Weak transcription	Osteobl	bone
3	chr13:76445600-76453400	Weak transcription	Adipose Nuclei	Adipose
4	chr13:76445600-76453600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:76449000-76451600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:76449600-76451600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:76450200-76451800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:76450400-76451600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:76450400-76451600	Enhancers	Fetal Muscle Leg	muscle
10	chr13:76450800-76451600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr13:76450800-76451600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:76450800-76451600	Enhancers	Rectal Smooth Muscle	rectum
13	chr13:76450800-76451800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:76451000-76451600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:76451000-76451600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:76451000-76451600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr13:76451000-76451600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:76451000-76451800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:76451000-76452600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:76451200-76451600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:76451200-76451600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:76451200-76452600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:76451200-76453800	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:76451200-76454000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:76451200-76454800	Weak transcription	Fetal Stomach	stomach
26	chr13:76451400-76451600	Enhancers	Stomach Smooth Muscle	stomach
27	chr13:76451400-76454800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:76451400-76455000	Weak transcription	Fetal Kidney	kidney
29	chr13:76451400-76455000	Weak transcription	Fetal Lung	lung

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