Variant report

Variant	rs56212963
Chromosome Location	chr1:172422405-172422406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
2	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
3	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180999	Chromatin interaction
ENSG00000094975	Chromatin interaction

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

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

rs_ID	r²[population]
rs10489282	0.93[EUR][1000 genomes]
rs16844474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41263736	0.93[EUR][1000 genomes]
rs74126219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126223	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs743948	0.91[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	nsv947449	chr1:172419586-172424910	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172417200-172423200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr1:172419600-172423200	Enhancers	K562	blood
3	chr1:172419600-172426000	Enhancers	Fetal Intestine Large	intestine
4	chr1:172419800-172424400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:172420200-172426000	Enhancers	Fetal Intestine Small	intestine
6	chr1:172420400-172422800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:172420400-172425400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:172420600-172422800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:172420800-172422800	Enhancers	HepG2	liver
10	chr1:172421000-172422600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:172421200-172423000	Enhancers	A549	lung
12	chr1:172421200-172423200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:172421200-172423600	Enhancers	Fetal Heart	heart
14	chr1:172421400-172423200	Enhancers	Stomach Mucosa	stomach
15	chr1:172421600-172422600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:172421600-172422600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:172421600-172422600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:172421800-172422800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:172421800-172423200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:172421800-172424000	Active TSS	Fetal Muscle Trunk	muscle
21	chr1:172422000-172422600	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr1:172422000-172423000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:172422200-172422600	Enhancers	Brain Substantia Nigra	brain
24	chr1:172422200-172423000	Active TSS	Right Atrium	heart
25	chr1:172422400-172422600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:172422400-172422600	Active TSS	HSMM	muscle
27	chr1:172422400-172423400	Active TSS	HSMMtube	muscle
28	chr1:172422400-172424400	Weak transcription	Pancreas	Pancrea
29	chr1:172422400-172426800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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