Variant report

Variant	rs4838618
Chromosome Location	chr10:49747626-49747627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49736745..49739219-chr10:49746347..49749288,2	MCF-7	breast:
2	chr10:49744884..49749313-chr10:49750312..49755068,6	K562	blood:

Variant related genes	Relation type
ENSG00000231906	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1445151	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4838619	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6537567	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7077561	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7092639	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7911418	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs935269	0.83[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	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49732200-49750800	Weak transcription	Gastric	stomach
2	chr10:49734400-49762400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:49735400-49749400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:49735400-49756800	Weak transcription	HSMMtube	muscle
5	chr10:49735600-49755600	Weak transcription	Brain Angular Gyrus	brain
6	chr10:49736200-49749400	Weak transcription	HUVEC	blood vessel
7	chr10:49739400-49762400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:49742600-49749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:49742600-49774800	Weak transcription	Aorta	Aorta
10	chr10:49742800-49755200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:49742800-49755200	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:49742800-49755600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:49743800-49757800	Weak transcription	HMEC	breast
14	chr10:49745200-49748800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:49745400-49748600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:49745600-49748600	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:49746000-49748800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:49746000-49749000	Weak transcription	NH-A	brain
19	chr10:49746000-49753600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:49746200-49749400	Weak transcription	NHLF	lung
21	chr10:49746400-49749800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:49746400-49749800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:49746400-49750200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr10:49746400-49750400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:49746400-49753800	Weak transcription	Brain Substantia Nigra	brain
26	chr10:49746400-49754600	Weak transcription	NHDF-Ad	bronchial
27	chr10:49746600-49748800	Weak transcription	Osteobl	bone
28	chr10:49746600-49749800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr10:49746600-49750200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr10:49747000-49748800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:49747000-49751000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr10:49747200-49748000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:49747200-49748000	Weak transcription	HSMM	muscle
34	chr10:49747200-49748600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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