Variant report

Variant	rs73926628
Chromosome Location	chr2:40598722-40598723
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40586222..40589135-chr2:40597627..40599804,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59775809	0.88[AFR][1000 genomes]
rs73926622	0.88[AFR][1000 genomes]
rs73926638	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong 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	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40591600-40600800	Weak transcription	Psoas Muscle	Psoas
2	chr2:40592200-40598800	Weak transcription	Left Ventricle	heart
3	chr2:40592400-40598800	Weak transcription	Ovary	ovary
4	chr2:40592400-40605200	Weak transcription	Right Atrium	heart
5	chr2:40592800-40606600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:40593400-40607000	Weak transcription	Dnd41	blood
7	chr2:40594200-40605200	Weak transcription	Fetal Brain Female	brain
8	chr2:40595000-40598800	Weak transcription	Fetal Brain Male	brain
9	chr2:40595000-40611000	Weak transcription	Right Ventricle	heart
10	chr2:40596000-40601600	Enhancers	Colon Smooth Muscle	Colon
11	chr2:40596400-40598800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:40596400-40600400	Enhancers	HSMM	muscle
13	chr2:40596400-40601200	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:40596400-40601400	Enhancers	Osteobl	bone
15	chr2:40596600-40599800	Enhancers	NH-A	brain
16	chr2:40597000-40601200	Enhancers	HSMMtube	muscle
17	chr2:40597000-40603400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:40597200-40599000	Enhancers	NHDF-Ad	bronchial
19	chr2:40597200-40601400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:40597400-40600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:40597400-40600600	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:40597400-40600800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:40597600-40598800	Weak transcription	HMEC	breast
24	chr2:40598000-40599000	Enhancers	NHLF	lung
25	chr2:40598000-40600600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:40598000-40601000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:40598200-40598800	Enhancers	Fetal Heart	heart
28	chr2:40598200-40599000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:40598200-40601200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:40598400-40598800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:40598400-40598800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:40598400-40599000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:40598400-40599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:40598400-40599400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:40598400-40599600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:40598400-40599600	Enhancers	Brain Anterior Caudate	brain
37	chr2:40598400-40599800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:40598400-40599800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:40598400-40599800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:40598400-40599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:40598400-40599800	Enhancers	Fetal Muscle Leg	muscle
42	chr2:40598400-40599800	Enhancers	Hela-S3	cervix
43	chr2:40598400-40600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:40598400-40600000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:40598400-40600000	Enhancers	Fetal Kidney	kidney
46	chr2:40598400-40601000	Enhancers	Fetal Stomach	stomach
47	chr2:40598400-40606600	Weak transcription	Aorta	Aorta
48	chr2:40598600-40598800	Enhancers	Stomach Mucosa	stomach
49	chr2:40598600-40599000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:40598600-40599000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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