Variant report

Variant	rs74107008
Chromosome Location	chr13:97646988-97646989
allele	A/G
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	chr13:97646850-97647263	HEK293	kidney:	n/a	n/a
2	TBP	chr13:97646852-97647044	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF384	chr13:97646881-97647076	K562	blood:	n/a	n/a
4	E2F6	chr13:97646160-97647052	H1-hESC	embryonic stem cell:	n/a	chr13:97646807-97646822 chr13:97646805-97646815 chr13:97646806-97646814 chr13:97646809-97646818 chr13:97646810-97646817 chr13:97646806-97646814 chr13:97646810-97646817 chr13:97646806-97646813 chr13:97646806-97646817 chr13:97646807-97646821 chr13:97646810-97646817 chr13:97646805-97646816
5	EGR1	chr13:97646844-97647233	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr13:97646831-97647026	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr13:97645896-97647249	H1-hESC	embryonic stem cell:	n/a	chr13:97646807-97646822 chr13:97646805-97646815 chr13:97646806-97646814 chr13:97646809-97646818 chr13:97646810-97646817 chr13:97646806-97646814 chr13:97646810-97646817 chr13:97646806-97646813 chr13:97646806-97646817 chr13:97646807-97646821 chr13:97646810-97646817 chr13:97646805-97646816

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HS6ST3-3	chr13:97646606-97649813	NONHSAT034817

Variant related genes	Relation type
OXGR1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10467218	0.83[AMR][1000 genomes]
rs1501862	1.00[AMR][1000 genomes]
rs57332857	0.83[AMR][1000 genomes]
rs61528018	0.83[AMR][1000 genomes]
rs7323624	0.83[AMR][1000 genomes]
rs7323749	0.83[AMR][1000 genomes]
rs7324215	0.83[AMR][1000 genomes]
rs7329047	0.83[AMR][1000 genomes]
rs74107003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7992251	0.83[AMR][1000 genomes]
rs9584466	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832693	chr13:97594845-97777481	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97645600-97647200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr13:97645800-97647000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr13:97645800-97647000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr13:97645800-97647000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr13:97645800-97647000	Active TSS	Fetal Kidney	kidney
6	chr13:97645800-97647000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr13:97645800-97647000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr13:97645800-97647000	Bivalent/Poised TSS	NHDF-Ad	bronchial
9	chr13:97645800-97647200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:97645800-97647200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:97645800-97647200	Active TSS	Fetal Brain Female	brain
12	chr13:97645800-97647200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr13:97645800-97647400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr13:97645800-97647400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr13:97645800-97647400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr13:97646000-97647000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:97646000-97647000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr13:97646000-97647000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
19	chr13:97646000-97647000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:97646000-97647000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:97646000-97647000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
22	chr13:97646000-97647000	Active TSS	Brain Anterior Caudate	brain
23	chr13:97646000-97647000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr13:97646000-97647000	Active TSS	Esophagus	oesophagus
25	chr13:97646000-97647000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr13:97646000-97647000	Active TSS	K562	blood
27	chr13:97646000-97647000	Bivalent/Poised TSS	NHLF	lung
28	chr13:97646000-97647200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr13:97646000-97647200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:97646000-97647200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:97646000-97647200	Active TSS	Brain Angular Gyrus	brain
32	chr13:97646000-97647200	Active TSS	Brain Hippocampus Middle	brain
33	chr13:97646000-97647200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:97646000-97647200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr13:97646000-97647200	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr13:97646000-97647400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:97646000-97647400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
38	chr13:97646200-97647000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr13:97646200-97647000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:97646200-97647000	Bivalent/Poised TSS	Aorta	Aorta
41	chr13:97646200-97647000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr13:97646200-97647200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:97646200-97647200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:97646200-97647200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:97646200-97647200	Active TSS	Brain Cingulate Gyrus	brain
46	chr13:97646200-97647200	Active TSS	Brain Substantia Nigra	brain
47	chr13:97646200-97647200	Bivalent Enhancer	Fetal Heart	heart
48	chr13:97646200-97647200	Bivalent/Poised TSS	A549	lung
49	chr13:97646400-97647000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr13:97646400-97647000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum

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