Variant report

Variant	rs74139439
Chromosome Location	chr10:44872453-44872454
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	EBF1	chr10:44871726-44872583	GM12878	blood:	n/a	chr10:44871832-44871845 chr10:44872247-44872256 chr10:44872246-44872257 chr10:44872245-44872258

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf10-6	chr10:44872333-44872548	NONHSAT013031

Variant related genes	Relation type
ENSG00000269515	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]
rs17878725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17884600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56781384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139443	0.94[AFR][1000 genomes];1.00[AMR][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	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv550699	chr10:44868257-44882203	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44850600-44877600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:44860000-44879000	Weak transcription	Gastric	stomach
3	chr10:44864600-44876200	Weak transcription	Brain Anterior Caudate	brain
4	chr10:44864600-44876800	Strong transcription	Fetal Stomach	stomach
5	chr10:44864800-44877800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr10:44865000-44873000	Weak transcription	Esophagus	oesophagus
7	chr10:44865400-44876200	Weak transcription	Right Atrium	heart
8	chr10:44865600-44878000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:44866000-44876200	Strong transcription	Left Ventricle	heart
10	chr10:44866000-44877600	Weak transcription	Fetal Brain Female	brain
11	chr10:44866200-44876000	Strong transcription	Osteobl	bone
12	chr10:44866400-44875600	Weak transcription	Fetal Brain Male	brain
13	chr10:44866400-44878600	Weak transcription	Liver	Liver
14	chr10:44866600-44876200	Weak transcription	Brain Germinal Matrix	brain
15	chr10:44866600-44877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:44866800-44875600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr10:44867000-44878200	Weak transcription	Brain Hippocampus Middle	brain
18	chr10:44867400-44875200	Strong transcription	Ovary	ovary
19	chr10:44867400-44876000	Strong transcription	Adipose Nuclei	Adipose
20	chr10:44867400-44876400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:44867400-44878000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:44867600-44878600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:44867800-44875400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:44868000-44875600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr10:44868200-44873600	Weak transcription	NHDF-Ad	bronchial
26	chr10:44868400-44873800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:44869200-44873200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:44869400-44875800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr10:44869600-44873200	Weak transcription	Aorta	Aorta
30	chr10:44869600-44878200	Weak transcription	Brain Substantia Nigra	brain
31	chr10:44869800-44876000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr10:44870000-44873600	Genic enhancers	Fetal Muscle Leg	muscle
33	chr10:44870200-44877600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr10:44871000-44873000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr10:44871000-44875000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:44871000-44877600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:44871200-44875000	Weak transcription	Colonic Mucosa	Colon
38	chr10:44871400-44873200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:44871400-44873200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:44871400-44875400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr10:44871600-44872600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr10:44871600-44872600	Enhancers	HSMM	muscle
43	chr10:44871600-44872600	Enhancers	HSMMtube	muscle
44	chr10:44871600-44877000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr10:44871800-44872600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr10:44871800-44877000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:44872000-44872800	Weak transcription	Fetal Intestine Large	intestine
48	chr10:44872000-44873200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:44872000-44873200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr10:44872000-44873200	Strong transcription	Fetal Muscle Trunk	muscle

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