Variant report

Variant	rs6740373
Chromosome Location	chr2:58457364-58457365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58455073..58459456-chr2:58466641..58469255,4	K562	blood:

Variant related genes	Relation type
ENSG00000273063	Chromatin interaction
ENSG00000115392	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10165760	0.89[AMR][1000 genomes]
rs10182762	0.89[AMR][1000 genomes]
rs1025755	0.89[AMR][1000 genomes]
rs11883874	0.89[AMR][1000 genomes]
rs11891477	0.89[AMR][1000 genomes]
rs11892302	0.89[AMR][1000 genomes]
rs11900900	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11903212	0.87[AFR][1000 genomes]
rs13397947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405281	0.89[AMR][1000 genomes]
rs13410500	0.89[AMR][1000 genomes]
rs13422760	0.85[AFR][1000 genomes]
rs1371213	0.89[AMR][1000 genomes]
rs1404459	0.87[AFR][1000 genomes]
rs1404460	0.87[AFR][1000 genomes]
rs2165103	0.89[AMR][1000 genomes]
rs2312486	0.89[AMR][1000 genomes]
rs34335951	0.86[AFR][1000 genomes]
rs57112138	0.89[AMR][1000 genomes]
rs58470176	0.89[AMR][1000 genomes]
rs60364084	0.89[AMR][1000 genomes]
rs6709533	0.84[AFR][1000 genomes]
rs6740836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742445	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs716758	0.89[AMR][1000 genomes]
rs72948876	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951042	0.89[AMR][1000 genomes]
rs72951048	0.89[AMR][1000 genomes]
rs72951056	0.89[AMR][1000 genomes]
rs7340170	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7590976	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7597069	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9309303	1.00[AMR][1000 genomes]
rs9973345	0.89[AMR][1000 genomes]
rs9973928	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58391000-58467000	Weak transcription	HMEC	breast
2	chr2:58414000-58461400	Weak transcription	NHEK	skin
3	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:58437000-58460200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:58437200-58459000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:58438600-58466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:58439000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:58439200-58457600	Weak transcription	Placenta	Placenta
10	chr2:58440000-58465000	Weak transcription	Fetal Brain Male	brain
11	chr2:58440000-58467400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:58440600-58462000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:58440600-58467400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:58440800-58457600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:58441000-58458200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:58443400-58460400	Weak transcription	Brain Germinal Matrix	brain
17	chr2:58443600-58462200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:58444200-58466200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:58448800-58464800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:58449400-58462400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:58450000-58466200	Weak transcription	HUVEC	blood vessel
22	chr2:58451000-58458000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:58451200-58457400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:58452000-58467400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:58452000-58467400	Weak transcription	NHLF	lung
26	chr2:58452200-58459000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:58452600-58460600	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:58453200-58458400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:58453800-58467400	Weak transcription	NHDF-Ad	bronchial
30	chr2:58454600-58457800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:58454600-58466800	Weak transcription	HSMM	muscle
32	chr2:58454800-58457600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:58454800-58457600	Weak transcription	Right Ventricle	heart
34	chr2:58454800-58458000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:58454800-58458600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:58454800-58460600	Weak transcription	Small Intestine	intestine
37	chr2:58454800-58462000	Weak transcription	K562	blood
38	chr2:58454800-58464400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:58454800-58464800	Weak transcription	Fetal Brain Female	brain
40	chr2:58454800-58466200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:58454800-58466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:58454800-58467400	Weak transcription	Primary B cells from cord blood	blood
43	chr2:58454800-58467400	Weak transcription	Fetal Thymus	thymus
44	chr2:58454800-58467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:58454800-58467400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:58454800-58467400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:58455000-58457400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:58455000-58457400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:58455000-58458000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:58455000-58458000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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