Variant report

Variant	rs4573238
Chromosome Location	chr8:99611994-99611995
allele	G/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	chr8:99611951-99612075	A549	lung:	n/a	n/a
2	FOS	chr8:99610909-99612106	MCF10A-Er-Src	breast:	n/a	chr8:99611525-99611534 chr8:99611258-99611269
3	FOS	chr8:99610876-99612081	MCF10A-Er-Src	breast:	n/a	chr8:99611525-99611534 chr8:99611258-99611269

No.	Distal block	Cell Line	Cell type
1	chr8:99610760..99613076-chr8:99616322..99619231,2	K562	blood:
2	chr8:99607382..99608915-chr8:99611725..99614614,2	K562	blood:
3	chr8:99610770..99613655-chr8:99614678..99619231,4	K562	blood:

Variant related genes	Relation type
ENSG00000253911	TF binding region
STK3	TF binding region
ENSG00000104375	Chromatin interaction
ENSG00000253911	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17372001	0.86[AMR][1000 genomes]
rs4734415	0.88[EUR][1000 genomes]
rs4735563	0.86[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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99587200-99613200	Weak transcription	GM12878-XiMat	blood
2	chr8:99588000-99612000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:99588000-99616000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:99588200-99615200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:99601400-99616000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:99602800-99612000	Weak transcription	Pancreas	Pancrea
7	chr8:99602800-99613600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:99602800-99614400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:99602800-99615000	Weak transcription	Adipose Nuclei	Adipose
10	chr8:99602800-99622800	Weak transcription	Esophagus	oesophagus
11	chr8:99603000-99612000	Weak transcription	Left Ventricle	heart
12	chr8:99603000-99612400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:99603000-99612600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:99603000-99616000	Weak transcription	Fetal Stomach	stomach
15	chr8:99603000-99635600	Weak transcription	Lung	lung
16	chr8:99604200-99612600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:99606600-99615800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:99606800-99616200	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:99606800-99635800	Weak transcription	Aorta	Aorta
20	chr8:99606800-99637400	Weak transcription	Ovary	ovary
21	chr8:99607200-99613000	Enhancers	Fetal Intestine Large	intestine
22	chr8:99607800-99612800	Enhancers	Fetal Intestine Small	intestine
23	chr8:99608400-99614400	Weak transcription	Gastric	stomach
24	chr8:99608400-99616600	Weak transcription	Liver	Liver
25	chr8:99609200-99612400	Enhancers	Brain Hippocampus Middle	brain
26	chr8:99609200-99613000	Enhancers	Brain Cingulate Gyrus	brain
27	chr8:99610000-99613000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:99610000-99613000	Enhancers	A549	lung
29	chr8:99610400-99615600	Enhancers	HMEC	breast
30	chr8:99610600-99612600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:99610600-99613400	Enhancers	NHEK	skin
32	chr8:99610600-99614000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:99610800-99612200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:99611000-99612600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:99611000-99616200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:99611200-99612400	Weak transcription	Brain Angular Gyrus	brain
37	chr8:99611200-99612400	Weak transcription	Brain Germinal Matrix	brain
38	chr8:99611200-99613000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:99611200-99614000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:99611400-99612400	Weak transcription	Fetal Heart	heart
41	chr8:99611400-99612400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:99611400-99612800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:99611600-99612000	Weak transcription	Brain Anterior Caudate	brain
44	chr8:99611600-99612200	Enhancers	Placenta	Placenta
45	chr8:99611600-99613600	Weak transcription	HSMM	muscle
46	chr8:99611800-99612800	Enhancers	Brain Substantia Nigra	brain
47	chr8:99611800-99613600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:99611800-99613600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:99611800-99613600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:99611800-99613600	Weak transcription	NH-A	brain

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