Variant report

Variant	rs72931123
Chromosome Location	chr3:48801621-48801622
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48800799..48802746-chr3:48804382..48806917,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59249086	1.00[AMR][1000 genomes]
rs72932027	1.00[AMR][1000 genomes]
rs72934780	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	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv3407876	chr3:48774454-48823998	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48777800-48807400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:48778000-48807200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:48778200-48814400	Weak transcription	Fetal Heart	heart
4	chr3:48778200-48820200	Weak transcription	Fetal Kidney	kidney
5	chr3:48778200-48836600	Weak transcription	A549	lung
6	chr3:48778600-48826000	Weak transcription	Stomach Mucosa	stomach
7	chr3:48782200-48814400	Weak transcription	K562	blood
8	chr3:48783400-48811400	Strong transcription	Fetal Stomach	stomach
9	chr3:48785400-48819200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:48786000-48803400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:48786200-48812600	Strong transcription	Fetal Muscle Leg	muscle
12	chr3:48786600-48807600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:48786600-48812800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:48786800-48807400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:48789200-48807400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:48789400-48807200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:48789400-48808000	Weak transcription	HUVEC	blood vessel
18	chr3:48789400-48844000	Weak transcription	Fetal Lung	lung
19	chr3:48789600-48820200	Weak transcription	Fetal Brain Male	brain
20	chr3:48789600-48820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:48789600-48825800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:48789800-48807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:48789800-48807200	Weak transcription	Esophagus	oesophagus
24	chr3:48789800-48807200	Weak transcription	Spleen	Spleen
25	chr3:48789800-48807400	Weak transcription	Aorta	Aorta
26	chr3:48789800-48807400	Weak transcription	Right Ventricle	heart
27	chr3:48789800-48819000	Weak transcription	Small Intestine	intestine
28	chr3:48790000-48807200	Weak transcription	Gastric	stomach
29	chr3:48790000-48819600	Weak transcription	NHLF	lung
30	chr3:48790200-48807400	Weak transcription	NHEK	skin
31	chr3:48790200-48823600	Weak transcription	HMEC	breast
32	chr3:48790400-48807400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:48790600-48807600	Weak transcription	GM12878-XiMat	blood
34	chr3:48791200-48825800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:48792200-48804000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr3:48792800-48804800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:48793200-48825800	Weak transcription	Fetal Thymus	thymus
38	chr3:48794400-48807600	Weak transcription	NH-A	brain
39	chr3:48794600-48803600	Weak transcription	Brain Substantia Nigra	brain
40	chr3:48794600-48807400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:48794600-48811800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:48794800-48810200	Weak transcription	Hela-S3	cervix
43	chr3:48794800-48819600	Weak transcription	NHDF-Ad	bronchial
44	chr3:48795200-48819600	Weak transcription	Colonic Mucosa	Colon
45	chr3:48795200-48833600	Weak transcription	Psoas Muscle	Psoas
46	chr3:48795400-48802600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:48796400-48802600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:48796400-48804200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:48796600-48801800	Weak transcription	Brain Germinal Matrix	brain
50	chr3:48797000-48823400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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