Variant report

Variant	rs73302712
Chromosome Location	chr10:50288403-50288404
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	MAX	chr10:50288074-50288544	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFK	chr10:50287887-50288550	HepG2	liver:	n/a	chr10:50288507-50288518 chr10:50288508-50288519 chr10:50288507-50288518 chr10:50288506-50288520 chr10:50288508-50288519
3	MAX	chr10:50288143-50288410	NB4	blood:	n/a	n/a
4	MAFK	chr10:50288073-50288554	HepG2	liver:	n/a	chr10:50288507-50288518 chr10:50288508-50288519 chr10:50288507-50288518 chr10:50288506-50288520 chr10:50288508-50288519
5	MAFK	chr10:50288056-50288408	K562	blood:	n/a	n/a
6	MAFK	chr10:50288069-50288408	IMR90	lung:	n/a	n/a
7	POLR2A	chr10:50288251-50288429	MCF10A-Er-Src	breast:	n/a	n/a
8	RCOR1	chr10:50288103-50288427	K562	blood:	n/a	n/a
9	MAX	chr10:50288150-50288506	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr10:50288102-50288404	NB4	blood:	n/a	n/a
11	MAX	chr10:50288229-50288544	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr10:50288177-50288528	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr10:50288136-50288570	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50287416..50289075-chr10:50291865..50294530,2	MCF-7	breast:
2	chr10:50288196..50290467-chr10:50297375..50300354,2	K562	blood:

Variant related genes	Relation type
VSTM4	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17011919	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73300958	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300987	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302798	1.00[AMR][1000 genomes]
rs7911808	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50266600-50289400	Weak transcription	Colonic Mucosa	Colon
2	chr10:50272600-50294200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:50273600-50289800	Weak transcription	NHDF-Ad	bronchial
4	chr10:50279600-50289200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:50279800-50288600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:50280600-50288600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:50282400-50289400	Weak transcription	Fetal Kidney	kidney
8	chr10:50283200-50288600	Weak transcription	Placenta	Placenta
9	chr10:50283200-50298200	Weak transcription	Spleen	Spleen
10	chr10:50284000-50288600	Weak transcription	Esophagus	oesophagus
11	chr10:50284600-50288600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:50284800-50292400	Enhancers	Liver	Liver
13	chr10:50285200-50292400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr10:50285400-50289200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:50285400-50289600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:50285600-50288600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:50286000-50292400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:50286800-50289600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:50287000-50290200	Enhancers	Fetal Intestine Small	intestine
20	chr10:50287200-50289400	Enhancers	Primary hematopoietic stem cells	blood
21	chr10:50287200-50290000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr10:50287200-50290400	Enhancers	K562	blood
23	chr10:50287200-50292200	Enhancers	Adipose Nuclei	Adipose
24	chr10:50287200-50292400	Enhancers	Brain Substantia Nigra	brain
25	chr10:50287400-50289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:50287400-50289000	Weak transcription	Lung	lung
27	chr10:50287600-50289000	Enhancers	HSMM	muscle
28	chr10:50287600-50290400	Enhancers	Fetal Intestine Large	intestine
29	chr10:50288000-50291400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr10:50288000-50291400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:50288200-50288600	Active TSS	Fetal Brain Male	brain
32	chr10:50288200-50288800	Enhancers	Fetal Lung	lung
33	chr10:50288200-50289200	Enhancers	Stomach Smooth Muscle	stomach
34	chr10:50288200-50289800	Enhancers	Right Atrium	heart
35	chr10:50288200-50291000	Enhancers	Fetal Muscle Leg	muscle
36	chr10:50288200-50291400	Enhancers	Brain Angular Gyrus	brain
37	chr10:50288200-50292000	Enhancers	Fetal Muscle Trunk	muscle
38	chr10:50288200-50292000	Genic enhancers	Fetal Stomach	stomach
39	chr10:50288200-50292200	Enhancers	Colon Smooth Muscle	Colon
40	chr10:50288200-50292200	Enhancers	Left Ventricle	heart
41	chr10:50288200-50292200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr10:50288200-50293200	Enhancers	Right Ventricle	heart
43	chr10:50288400-50288600	Enhancers	Brain Germinal Matrix	brain
44	chr10:50288400-50289000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:50288400-50289000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:50288400-50289000	Weak transcription	Fetal Thymus	thymus
47	chr10:50288400-50289600	Enhancers	Aorta	Aorta
48	chr10:50288400-50289600	Enhancers	Pancreas	Pancrea
49	chr10:50288400-50290200	Enhancers	NHLF	lung
50	chr10:50288400-50291000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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