Variant report

Variant	rs72720934
Chromosome Location	chr1:180511356-180511357
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:180511240-180511721	H1-hESC	embryonic stem cell:	n/a	chr1:180511504-180511513
2	USF2	chr1:180511310-180511407	K562	blood:	n/a	n/a
3	IRF1	chr1:180511300-180511432	K562	blood:	n/a	n/a
4	TCF12	chr1:180511356-180511535	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr1:180511244-180511784	ECC-1	luminal epithelium:	n/a	chr1:180511504-180511513
6	TEAD4	chr1:180511207-180511899	ECC-1	luminal epithelium:	n/a	chr1:180511504-180511513
7	TEAD4	chr1:180511275-180511738	H1-hESC	embryonic stem cell:	n/a	chr1:180511504-180511513
8	EP300	chr1:180511194-180511902	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180507839..180510458-chr1:180510629..180513153,2	K562	blood:
2	chr1:180511015..180513302-chr1:180517883..180519397,2	K562	blood:
3	chr1:180509296..180511935-chr1:180795313..180796906,2	K562	blood:
4	chr1:180505841..180513650-chr1:180514886..180521271,14	K562	blood:
5	chr1:180505455..180510458-chr1:180510629..180513153,4	K562	blood:
6	chr1:180501651..180503663-chr1:180510175..180512721,2	K562	blood:
7	chr1:180510781..180513155-chr1:180847874..180850004,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266683	TF binding region
ENSG00000266683	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72716604	1.00[AMR][1000 genomes]
rs72720924	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180506200-180513200	Weak transcription	Pancreas	Pancrea
2	chr1:180506800-180511400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:180507000-180514800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:180508000-180513200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:180508800-180511400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:180508800-180513000	Enhancers	Fetal Heart	heart
7	chr1:180509000-180511600	Enhancers	HMEC	breast
8	chr1:180509400-180511400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:180509400-180512800	Enhancers	Osteobl	bone
10	chr1:180509400-180513400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:180509600-180512200	Enhancers	HSMMtube	muscle
12	chr1:180510000-180512200	Enhancers	K562	blood
13	chr1:180510200-180512200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:180510200-180512600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:180510200-180516000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:180510400-180513000	Enhancers	Fetal Brain Male	brain
17	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:180510800-180512000	Weak transcription	Brain Germinal Matrix	brain
19	chr1:180511000-180512000	Enhancers	Left Ventricle	heart
20	chr1:180511000-180512200	Enhancers	Adipose Nuclei	Adipose
21	chr1:180511000-180512400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:180511000-180513400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:180511200-180511600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:180511200-180511600	Enhancers	Fetal Thymus	thymus
25	chr1:180511200-180511600	Enhancers	Psoas Muscle	Psoas
26	chr1:180511200-180511800	Enhancers	Right Atrium	heart
27	chr1:180511200-180512000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:180511200-180512000	Enhancers	Fetal Stomach	stomach
29	chr1:180511200-180512200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:180511200-180512200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:180511200-180512200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:180511200-180512200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:180511200-180512200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:180511200-180512200	Enhancers	Aorta	Aorta
35	chr1:180511200-180512200	Enhancers	Fetal Brain Female	brain
36	chr1:180511200-180512200	Enhancers	Ovary	ovary
37	chr1:180511200-180512200	Enhancers	Right Ventricle	heart
38	chr1:180511200-180512200	Enhancers	NH-A	brain
39	chr1:180511200-180512400	Enhancers	Fetal Muscle Leg	muscle
40	chr1:180511200-180512400	Enhancers	HSMM	muscle
41	chr1:180511200-180512600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:180511200-180512800	Enhancers	Colon Smooth Muscle	Colon
43	chr1:180511200-180512800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:180511200-180513400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr1:180511200-180513400	Enhancers	Brain Anterior Caudate	brain

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