Variant report

Variant	rs17043883
Chromosome Location	chr3:17714343-17714344
allele	A/C
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	MXI1	chr3:17713820-17714615	SK-N-SH	brain:	n/a	chr3:17713945-17713960
2	RAD21	chr3:17714069-17714371	SK-N-SH_RA	brain:	n/a	chr3:17714245-17714252
3	CEBPB	chr3:17714341-17714601	A549	lung:	n/a	n/a
4	RAD21	chr3:17714101-17714364	SK-N-SH_RA	brain:	n/a	chr3:17714245-17714252
5	TCF12	chr3:17713866-17714558	SK-N-SH	brain:	n/a	chr3:17714172-17714180
6	EP300	chr3:17714010-17714394	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr3:17714008-17714352	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
TBC1D5	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11925034	1.00[LWK][hapmap];1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1849856	chr3:17646794-17748688	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1828838	chr3:17646794-17757960	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv999594	chr3:17690416-17982318	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:17681800-17714400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:17694400-17721800	Weak transcription	A549	lung
3	chr3:17702200-17718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:17702200-17719000	Weak transcription	Dnd41	blood
5	chr3:17707000-17734800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:17709200-17723200	Weak transcription	Aorta	Aorta
7	chr3:17709200-17732000	Weak transcription	Psoas Muscle	Psoas
8	chr3:17709600-17725800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:17710800-17719800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:17711400-17755000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr3:17711800-17714400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:17712400-17716800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:17712600-17732600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:17712800-17719600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:17712800-17719800	Weak transcription	HUVEC	blood vessel
16	chr3:17713400-17723200	Weak transcription	Primary B cells from cord blood	blood
17	chr3:17713800-17714400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:17713800-17714400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:17713800-17714400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr3:17713800-17715000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:17714000-17714400	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr3:17714000-17714400	Enhancers	Colon Smooth Muscle	Colon
23	chr3:17714000-17714600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:17714000-17714600	Active TSS	Brain Substantia Nigra	brain
25	chr3:17714200-17714400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:17714200-17714400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:17714200-17714400	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr3:17714200-17714400	Enhancers	Thymus	Thymus
29	chr3:17714200-17714400	Enhancers	NHDF-Ad	bronchial

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