Variant report

Variant	rs7003003
Chromosome Location	chr8:114449501-114449502
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	chr8:114448761-114449803	SK-N-MC	brain:	n/a	n/a
2	CTCF	chr8:114449490-114449505	HepG2	liver:	n/a	n/a
3	WRNIP1	chr8:114449272-114449587	GM12878	blood:	n/a	n/a
4	TCF7L2	chr8:114448911-114449608	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr8:114448922-114449699	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr8:114448948-114450279	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr8:114448771-114449730	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
CSMD3	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10106338	1.00[AMR][1000 genomes]
rs10107745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10109289	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10216929	1.00[AMR][1000 genomes]
rs10283068	1.00[AMR][1000 genomes]
rs12334661	1.00[AMR][1000 genomes]
rs16884683	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892652	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28436273	1.00[AMR][1000 genomes]
rs6989956	1.00[AMR][1000 genomes]
rs6990249	1.00[AMR][1000 genomes]
rs9297491	1.00[AMR][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	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114443800-114450200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:114443800-114450400	Active TSS	Brain Substantia Nigra	brain
3	chr8:114444200-114450800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:114444400-114450200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr8:114444400-114450600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr8:114446400-114450600	Active TSS	Brain Anterior Caudate	brain
7	chr8:114446400-114451200	Active TSS	Brain Angular Gyrus	brain
8	chr8:114446600-114450600	Active TSS	Brain Germinal Matrix	brain
9	chr8:114446800-114449600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:114447000-114450800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr8:114447400-114449600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr8:114447400-114449600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr8:114447400-114449800	Weak transcription	Aorta	Aorta
14	chr8:114447400-114450200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:114447600-114449600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr8:114447800-114450200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr8:114447800-114450400	Weak transcription	Pancreas	Pancrea
18	chr8:114448400-114450200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:114448400-114450600	Active TSS	Fetal Brain Male	brain
20	chr8:114448600-114449600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr8:114448600-114449800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr8:114448600-114450200	Bivalent/Poised TSS	Fetal Lung	lung
23	chr8:114448600-114450400	Active TSS	Brain Hippocampus Middle	brain
24	chr8:114448800-114449600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:114448800-114450000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:114448800-114450000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr8:114448800-114450400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:114448800-114450400	Active TSS	Fetal Brain Female	brain
29	chr8:114448800-114450800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:114448800-114450800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:114448800-114450800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr8:114448800-114451000	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr8:114448800-114451200	Active TSS	Brain Cingulate Gyrus	brain
34	chr8:114449000-114449600	Bivalent/Poised TSS	NH-A	brain
35	chr8:114449000-114449800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:114449000-114450000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr8:114449000-114450000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:114449000-114450000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:114449000-114450200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
40	chr8:114449000-114450200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr8:114449000-114450400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:114449000-114451000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr8:114449200-114449600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:114449200-114449600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr8:114449200-114449600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
46	chr8:114449200-114449600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:114449200-114450200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:114449200-114450200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:114449200-114450200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr8:114449200-114450400	Active TSS	Right Atrium	heart

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