Variant report

Variant	rs58731407
Chromosome Location	chr2:73225737-73225738
allele	A/C
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	POLR2A	chr2:73225643-73225768	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73224797..73226366-chr2:73246604..73249369,2	MCF-7	breast:
2	chr2:73225489..73227470-chr2:73297396..73299459,2	K562	blood:
3	chr2:73224525..73226989-chr2:73297396..73299577,2	K562	blood:

Variant related genes	Relation type
SFXN5	TF binding region
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10496188	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13404068	0.80[EUR][1000 genomes]
rs17008541	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17008565	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008579	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17008608	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2421099	0.80[EUR][1000 genomes]
rs3849393	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59108557	0.83[EUR][1000 genomes]
rs61164794	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61652727	0.83[EUR][1000 genomes]
rs62147718	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62147722	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62147726	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62147727	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62147728	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62147731	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62147733	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62147735	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62147756	0.82[EUR][1000 genomes]
rs62148129	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62148130	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66570372	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6710911	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753054	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753133	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753301	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67673165	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73168800-73226800	Weak transcription	NHLF	lung
2	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
8	chr2:73208200-73227000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:73208400-73227400	Weak transcription	A549	lung
10	chr2:73208400-73227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:73208600-73227200	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:73209000-73227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:73209000-73227200	Weak transcription	HSMM	muscle
14	chr2:73210400-73227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
16	chr2:73211600-73235800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:73212200-73247400	Weak transcription	HSMMtube	muscle
18	chr2:73212400-73227400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:73212400-73236000	Weak transcription	Esophagus	oesophagus
20	chr2:73212800-73238800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:73213800-73227400	Weak transcription	Gastric	stomach
22	chr2:73213800-73236200	Weak transcription	Pancreas	Pancrea
23	chr2:73214000-73232000	Weak transcription	Aorta	Aorta
24	chr2:73214000-73238400	Weak transcription	Fetal Lung	lung
25	chr2:73214200-73247800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
27	chr2:73215200-73228400	Weak transcription	Placenta	Placenta
28	chr2:73215400-73236000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:73215800-73235600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:73215800-73247400	Weak transcription	Thymus	Thymus
31	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:73216000-73236000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:73216200-73227600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:73216200-73248800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:73216800-73234400	Weak transcription	Primary T cells from cord blood	blood
36	chr2:73217400-73228000	Weak transcription	Left Ventricle	heart
37	chr2:73217400-73231800	Weak transcription	Fetal Heart	heart
38	chr2:73217400-73236200	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:73217400-73249000	Weak transcription	Ovary	ovary
40	chr2:73217600-73225800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:73217600-73227200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:73217600-73227400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:73217800-73237400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:73218000-73227400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:73220600-73225800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:73220600-73227200	Strong transcription	Fetal Intestine Small	intestine
47	chr2:73220600-73227400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:73220600-73227400	Weak transcription	K562	blood
49	chr2:73220600-73227600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:73220600-73249000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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