Variant report

Variant	rs1513523
Chromosome Location	chr8:114450754-114450755
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	KAP1	chr8:114449958-114451181	HEK293	kidney:	n/a	n/a
2	RAD21	chr8:114449853-114451074	H1-hESC	embryonic stem cell:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
3	CTCF	chr8:114450685-114450757	Fibrobl	skin:	n/a	n/a
4	SMC3	chr8:114449759-114450919	SK-N-SH	brain:	n/a	chr8:114450100-114450114
5	POLR2A	chr8:114450531-114450760	MCF-7	breast:	n/a	n/a
6	RAD21	chr8:114449649-114451222	SK-N-SH	brain:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
7	TFAP2A	chr8:114450013-114451057	Hela-S3	cervix:	n/a	chr8:114450395-114450405 chr8:114450395-114450405 chr8:114450393-114450407 chr8:114451010-114451021 chr8:114450395-114450405 chr8:114451010-114451021 chr8:114451010-114451021 chr8:114450393-114450407 chr8:114451010-114451021 chr8:114450391-114450406 chr8:114450395-114450405 chr8:114450393-114450407 chr8:114450393-114450407
8	POLR2A	chr8:114450450-114450786	MCF-7	breast:	n/a	n/a
9	SUZ12	chr8:114449932-114451284	H1-hESC	embryonic stem cell:	n/a	n/a
10	TFAP2C	chr8:114449991-114451182	Hela-S3	cervix:	n/a	chr8:114450391-114450406
11	HA-E2F1	chr8:114449826-114451240	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
CSMD3	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10089887	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12545155	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12678354	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1382467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1398811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1513515	1.00[CHB][hapmap]
rs1513524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2927868	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2927869	1.00[JPT][hapmap]
rs2927870	1.00[CHB][hapmap]
rs2927871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2927872	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2942848	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2942851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2942852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2954880	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4311682	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4354335	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4593574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs6469455	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6469457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7002354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7003686	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7831822	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7839252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs9297493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs9643079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs9649937	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2761461	chr8:114420164-114462173	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831429	chr8:114438561-114595565	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114444200-114450800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:114446400-114451200	Active TSS	Brain Angular Gyrus	brain
3	chr8:114447000-114450800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr8:114448800-114450800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:114448800-114450800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:114448800-114450800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chr8:114448800-114451000	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr8:114448800-114451200	Active TSS	Brain Cingulate Gyrus	brain
9	chr8:114449000-114451000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:114449200-114450800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
11	chr8:114449200-114451000	Bivalent Enhancer	Fetal Heart	heart
12	chr8:114449400-114450800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr8:114449600-114450800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:114449600-114450800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:114449600-114450800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr8:114449600-114450800	Flanking Bivalent TSS/Enh	NH-A	brain
17	chr8:114449600-114451000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:114449800-114451000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:114449800-114451000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:114449800-114451000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:114449800-114451200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr8:114449800-114451200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:114450000-114450800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr8:114450000-114450800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:114450000-114450800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr8:114450000-114451000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr8:114450000-114451000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:114450000-114451200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:114450000-114451200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr8:114450000-114451200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr8:114450200-114450800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:114450200-114450800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr8:114450200-114450800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:114450200-114450800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:114450200-114450800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:114450200-114450800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr8:114450200-114450800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr8:114450200-114450800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr8:114450200-114450800	Active TSS	NHDF-Ad	bronchial
40	chr8:114450200-114451000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:114450200-114451000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:114450200-114451000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr8:114450200-114451000	Bivalent Enhancer	Placenta	Placenta
44	chr8:114450200-114451200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:114450200-114451200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
46	chr8:114450400-114450800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:114450400-114450800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
48	chr8:114450400-114450800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:114450400-114450800	Bivalent Enhancer	Aorta	Aorta
50	chr8:114450400-114450800	Flanking Active TSS	Brain Hippocampus Middle	brain

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