Variant report

Variant	rs60320773
Chromosome Location	chr1:211722942-211722943
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211721060..211723722-chr1:211744392..211746338,2	K562	blood:
2	chr1:211720115..211724286-chr1:211726481..211730427,4	K562	blood:
3	chr1:211721919..211725737-chr1:211730323..211735223,5	MCF-7	breast:
4	chr1:211721376..211723554-chr1:211750569..211753280,2	K562	blood:
5	chr1:211720646..211723922-chr1:211723928..211727458,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12565970	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099949	0.81[ASN][1000 genomes]
rs34414069	0.81[ASN][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211716600-211725000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211720200-211726000	Enhancers	Fetal Intestine Small	intestine
3	chr1:211720800-211723000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:211720800-211723600	Enhancers	Fetal Heart	heart
5	chr1:211720800-211726000	Enhancers	Fetal Intestine Large	intestine
6	chr1:211721000-211723000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:211721000-211723000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr1:211721000-211723000	Enhancers	Right Atrium	heart
9	chr1:211721200-211723000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:211721400-211723200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:211721600-211723000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:211721600-211723000	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:211721600-211723000	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:211721600-211723000	Enhancers	Placenta	Placenta
15	chr1:211721600-211723000	Enhancers	Right Ventricle	heart
16	chr1:211721600-211723200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:211721600-211723200	Enhancers	Aorta	Aorta
18	chr1:211721600-211723200	Enhancers	Left Ventricle	heart
19	chr1:211721800-211723200	Enhancers	Fetal Muscle Leg	muscle
20	chr1:211722000-211723000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:211722000-211723200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:211722000-211723200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:211722200-211723000	Enhancers	Spleen	Spleen
24	chr1:211722200-211723000	Flanking Active TSS	Hela-S3	cervix
25	chr1:211722200-211723000	Bivalent Enhancer	HepG2	liver
26	chr1:211722200-211723200	Enhancers	Fetal Thymus	thymus
27	chr1:211722200-211725000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:211722400-211723200	Enhancers	Colon Smooth Muscle	Colon
29	chr1:211722600-211723000	Enhancers	Stomach Smooth Muscle	stomach
30	chr1:211722600-211724400	Enhancers	K562	blood
31	chr1:211722800-211723000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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