Variant report

Variant	rs72757058
Chromosome Location	chr1:226265123-226265124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226264478..226267738-chr1:226269355..226272472,4	MCF-7	breast:
2	chr1:226261992..226263896-chr1:226264749..226266736,2	MCF-7	breast:
3	chr1:226264451..226267544-chr1:226268018..226271445,4	K562	blood:
4	chr1:226263073..226265688-chr1:226283492..226286282,2	K562	blood:
5	chr1:226187222..226188772-chr1:226264191..226266686,2	K562	blood:
6	chr1:226108541..226110324-chr1:226263223..226265933,2	K562	blood:
7	chr1:226262486..226265273-chr1:226296907..226299261,2	K562	blood:

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction
ENSG00000225518	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10915935	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226253000-226270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:226253200-226270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:226253200-226270600	Weak transcription	Aorta	Aorta
4	chr1:226253600-226270400	Weak transcription	Small Intestine	intestine
5	chr1:226254000-226267400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:226254600-226266000	Weak transcription	Psoas Muscle	Psoas
7	chr1:226254600-226270400	Weak transcription	Right Ventricle	heart
8	chr1:226256600-226270400	Weak transcription	Pancreas	Pancrea
9	chr1:226256600-226270600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:226257800-226270400	Weak transcription	Stomach Mucosa	stomach
11	chr1:226258000-226270400	Weak transcription	Ovary	ovary
12	chr1:226258000-226270400	Weak transcription	NHEK	skin
13	chr1:226258000-226270600	Weak transcription	Lung	lung
14	chr1:226258200-226270400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:226258200-226270400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:226258600-226270400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:226258600-226270400	Weak transcription	Esophagus	oesophagus
18	chr1:226258800-226270400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:226258800-226270600	Weak transcription	Gastric	stomach
20	chr1:226259000-226267600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:226259000-226270400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:226259200-226270400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:226259200-226270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:226260000-226270400	Weak transcription	Brain Angular Gyrus	brain
25	chr1:226260000-226270600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:226260400-226270200	Weak transcription	Hela-S3	cervix
27	chr1:226260400-226270400	Weak transcription	Colonic Mucosa	Colon
28	chr1:226260600-226270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:226260600-226270400	Weak transcription	Brain Anterior Caudate	brain
30	chr1:226260600-226270400	Weak transcription	Brain Substantia Nigra	brain
31	chr1:226260600-226270400	Weak transcription	NHLF	lung
32	chr1:226260800-226270600	Weak transcription	Fetal Brain Male	brain
33	chr1:226261000-226266200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:226261000-226266400	Weak transcription	HSMMtube	muscle
35	chr1:226261000-226270400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:226261000-226270400	Weak transcription	HMEC	breast
37	chr1:226261200-226266000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:226261200-226266000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:226261200-226266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:226261200-226266400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:226261200-226270200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:226261200-226270200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:226261200-226270200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:226261200-226270200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:226261200-226270400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:226261200-226270400	Weak transcription	NH-A	brain
47	chr1:226261200-226270600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:226261400-226270400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:226261600-226266400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:226261600-226270200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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