Variant report

Variant	rs60562382
Chromosome Location	chr1:211794756-211794757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
2	chr1:211793145..211800078-chr1:211800841..211805263,11	K562	blood:
3	chr1:211789857..211792626-chr1:211793343..211797405,3	MCF-7	breast:
4	chr1:211794683..211796296-chr1:211806280..211809015,2	MCF-7	breast:
5	chr1:211750175..211752449-chr1:211792293..211794953,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34490984	0.87[AFR][1000 genomes]
rs73078737	0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211785600-211794800	Weak transcription	Brain Anterior Caudate	brain
2	chr1:211787000-211796800	Weak transcription	Gastric	stomach
3	chr1:211790200-211794800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:211790200-211794800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:211790400-211794800	Weak transcription	Right Ventricle	heart
6	chr1:211790400-211795200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:211790400-211796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:211790400-211798400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:211790400-211803600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:211790600-211794800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:211790600-211795000	Weak transcription	Adipose Nuclei	Adipose
12	chr1:211791400-211794800	Weak transcription	Left Ventricle	heart
13	chr1:211793400-211795200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:211793400-211795400	Enhancers	HepG2	liver
15	chr1:211793400-211796800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:211793400-211803000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:211793800-211794800	Active TSS	Fetal Thymus	thymus
18	chr1:211793800-211794800	Weak transcription	K562	blood
19	chr1:211794000-211795000	Weak transcription	Spleen	Spleen
20	chr1:211794200-211796400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:211794400-211795200	Enhancers	Esophagus	oesophagus
22	chr1:211794400-211795400	Enhancers	Fetal Muscle Trunk	muscle
23	chr1:211794600-211795200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:211794600-211795200	Enhancers	Right Atrium	heart
25	chr1:211794600-211795400	Enhancers	Stomach Smooth Muscle	stomach
26	chr1:211794600-211795400	Enhancers	A549	lung

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