Variant report

Variant	rs1348632
Chromosome Location	chr10:49758116-49758117
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	FOS	chr10:49758099-49758535	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr10:49758084-49758527	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr10:49758020-49758692	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr10:49758048-49758137	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49752837..49756323-chr10:49756689..49758755,3	K562	blood:
2	chr10:49513465..49516141-chr10:49755836..49758473,2	K562	blood:

Variant related genes	Relation type
ENSG00000231906	TF binding region
ENSG00000107643	Chromatin interaction
ENSG00000231906	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4593967	1.00[ASN][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49734400-49762400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:49739400-49762400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:49742600-49774800	Weak transcription	Aorta	Aorta
4	chr10:49749600-49758800	Weak transcription	NH-A	brain
5	chr10:49751200-49771600	Weak transcription	Pancreas	Pancrea
6	chr10:49751400-49759600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:49752200-49760200	Strong transcription	HSMM	muscle
8	chr10:49753000-49760200	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr10:49753200-49760200	Strong transcription	Osteobl	bone
10	chr10:49753400-49759600	Strong transcription	NHLF	lung
11	chr10:49753400-49764400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:49753800-49759600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:49755000-49761800	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:49756000-49760000	Weak transcription	Ovary	ovary
15	chr10:49756200-49759600	Weak transcription	Brain Angular Gyrus	brain
16	chr10:49756200-49759800	Weak transcription	Fetal Lung	lung
17	chr10:49756400-49759800	Weak transcription	Brain Anterior Caudate	brain
18	chr10:49756400-49759800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:49756600-49759800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:49756800-49759400	Weak transcription	Brain Substantia Nigra	brain
21	chr10:49757000-49759000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:49757000-49759600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr10:49757000-49759800	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:49757200-49758800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:49757200-49760200	Strong transcription	NHDF-Ad	bronchial
26	chr10:49757400-49759800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:49757400-49760400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:49757400-49761600	Enhancers	HUVEC	blood vessel
29	chr10:49757400-49782200	Weak transcription	HSMMtube	muscle
30	chr10:49757800-49758400	Strong transcription	HMEC	breast
31	chr10:49757800-49759800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:49758000-49758600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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