Variant report

Variant	rs72812352
Chromosome Location	chr2:58463680-58463681
allele	A/T
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	CEBPB	chr2:58463661-58464271	Hela-S3	cervix:	n/a	chr2:58463826-58463837
2	SETDB1	chr2:58462932-58463890	U2OS	brain:	n/a	n/a
3	KAP1	chr2:58462754-58463787	K562	blood:	n/a	n/a
4	CEBPB	chr2:58463667-58463886	A549	lung:	n/a	chr2:58463826-58463837

No.	Distal block	Cell Line	Cell type
1	chr2:58448319..58453371-chr2:58460380..58466527,5	K562	blood:
2	chr2:58461440..58463968-chr2:58466264..58469940,5	MCF-7	breast:
3	chr2:58459530..58463779-chr2:58463929..58469122,8	K562	blood:
4	chr2:58457454..58459312-chr2:58461373..58464013,3	K562	blood:
5	chr2:58444316..58447844-chr2:58463533..58467170,3	K562	blood:

Variant related genes	Relation type
ENSG00000273063	TF binding region
ENSG00000115392	Chromatin interaction
ENSG00000273063	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12474593	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12475192	0.85[EUR][1000 genomes]
rs12476829	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17049394	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17049416	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17049417	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17049423	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17326957	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36000054	0.93[AMR][1000 genomes]
rs56028716	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72810350	0.81[AMR][1000 genomes]
rs72810385	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72810394	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58391000-58467000	Weak transcription	HMEC	breast
2	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:58438600-58466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:58439000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:58440000-58465000	Weak transcription	Fetal Brain Male	brain
7	chr2:58440000-58467400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:58440600-58467400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:58444200-58466200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:58448800-58464800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:58450000-58466200	Weak transcription	HUVEC	blood vessel
12	chr2:58452000-58467400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:58452000-58467400	Weak transcription	NHLF	lung
14	chr2:58453800-58467400	Weak transcription	NHDF-Ad	bronchial
15	chr2:58454600-58466800	Weak transcription	HSMM	muscle
16	chr2:58454800-58464400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:58454800-58464800	Weak transcription	Fetal Brain Female	brain
18	chr2:58454800-58466200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:58454800-58466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:58454800-58467400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:58454800-58467400	Weak transcription	Fetal Thymus	thymus
22	chr2:58454800-58467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:58454800-58467400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:58454800-58467400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:58455000-58465000	Weak transcription	Thymus	Thymus
26	chr2:58455000-58465400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:58455000-58466200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:58455000-58466200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:58455000-58466200	Weak transcription	Fetal Intestine Small	intestine
30	chr2:58455000-58466800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:58455000-58466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:58455000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:58455000-58467400	Weak transcription	Fetal Stomach	stomach
34	chr2:58455000-58467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:58455000-58467600	Weak transcription	Left Ventricle	heart
36	chr2:58455000-58467600	Weak transcription	Ovary	ovary
37	chr2:58455000-58468000	Weak transcription	Gastric	stomach
38	chr2:58455000-58468000	Weak transcription	Spleen	Spleen
39	chr2:58455200-58467400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:58455200-58467400	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:58456000-58464800	Weak transcription	Brain Anterior Caudate	brain
42	chr2:58456800-58465400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:58457600-58465000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:58459800-58465000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:58460800-58464800	Weak transcription	Hela-S3	cervix
46	chr2:58460800-58467400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:58461000-58465000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:58461000-58465000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:58461000-58465000	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:58461000-58466200	Weak transcription	Brain Germinal Matrix	brain

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