Variant report

Variant	rs72926025
Chromosome Location	chr1:67397276-67397277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr1:67397132-67397531	K562	blood:	n/a	n/a
2	IRF1	chr1:67397210-67397392	K562	blood:	n/a	chr1:67397311-67397325
3	BCLAF1	chr1:67397135-67397741	GM12878	blood:	n/a	n/a
4	CUX1	chr1:67396985-67397654	K562	blood:	n/a	n/a
5	IRF1	chr1:67395114-67397659	K562	blood:	n/a	chr1:67395892-67395906 chr1:67397382-67397393 chr1:67397311-67397325 chr1:67397020-67397033 chr1:67397384-67397394 chr1:67395772-67395786 chr1:67397384-67397398
6	IRF1	chr1:67396896-67397703	K562	blood:	n/a	chr1:67397382-67397393 chr1:67397311-67397325 chr1:67397020-67397033 chr1:67397384-67397394 chr1:67397384-67397398

No.	Distal block	Cell Line	Cell type
1	chr1:67389047..67393171-chr1:67393255..67399137,11	MCF-7	breast:
2	chr1:67385997..67392679-chr1:67394416..67400305,9	MCF-7	breast:
3	chr1:67396042..67397718-chr1:67399793..67402319,2	MCF-7	breast:

Variant related genes	Relation type
MIER1	TF binding region
ENSG00000198160	Chromatin interaction
ENSG00000152763	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59332340	0.97[AFR][1000 genomes]
rs72924194	0.81[AFR][1000 genomes]
rs72926008	0.81[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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv947266	chr1:67358868-67399427	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67395000-67397400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:67395000-67398800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:67395000-67401400	Active TSS	K562	blood
4	chr1:67395200-67397400	Active TSS	Fetal Kidney	kidney
5	chr1:67395200-67397400	Active TSS	Fetal Stomach	stomach
6	chr1:67395200-67397400	Active TSS	Psoas Muscle	Psoas
7	chr1:67395200-67397400	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr1:67395200-67397400	Active TSS	Small Intestine	intestine
9	chr1:67395200-67397600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:67395200-67397600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:67395200-67397600	Active TSS	Right Ventricle	heart
12	chr1:67395200-67397600	Active TSS	Thymus	Thymus
13	chr1:67395200-67397800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:67395200-67397800	Active TSS	Fetal Intestine Large	intestine
15	chr1:67395200-67398000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:67395200-67398000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:67395200-67398200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:67395200-67398400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:67395200-67398600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:67395200-67398600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:67395400-67397400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:67395400-67397400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:67395400-67397400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:67395400-67397400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr1:67395400-67397400	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:67395400-67397400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:67395400-67397400	Active TSS	Right Atrium	heart
28	chr1:67395400-67397400	Active TSS	HSMM	muscle
29	chr1:67395400-67397400	Active TSS	HSMMtube	muscle
30	chr1:67395400-67397600	Active TSS	Aorta	Aorta
31	chr1:67395400-67397600	Active TSS	Colonic Mucosa	Colon
32	chr1:67395400-67397600	Active TSS	Colon Smooth Muscle	Colon
33	chr1:67395400-67397600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:67395400-67397600	Active TSS	Fetal Brain Female	brain
35	chr1:67395400-67397600	Active TSS	Ovary	ovary
36	chr1:67395400-67397800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:67395400-67397800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:67395400-67397800	Active TSS	Brain Germinal Matrix	brain
39	chr1:67395400-67397800	Active TSS	NHDF-Ad	bronchial
40	chr1:67395400-67398000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:67395400-67398000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr1:67395400-67398000	Active TSS	Stomach Mucosa	stomach
43	chr1:67395400-67398200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:67395400-67398200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:67395400-67399000	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:67395400-67400200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:67395400-67401000	Active TSS	A549	lung
48	chr1:67395600-67397400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:67395600-67397400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:67395600-67397400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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