Variant report

Variant	rs58682372
Chromosome Location	chr12:120587190-120587191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120582806..120587342-chr12:120631625..120635566,4	K562	blood:
2	chr12:120585916..120589195-chr12:120646328..120649433,3	MCF-7	breast:
3	chr12:120584903..120587679-chr12:120593088..120596006,3	MCF-7	breast:
4	chr12:120569171..120570951-chr12:120586181..120588091,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089154	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000266704	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1151821	1.00[EUR][1000 genomes]
rs1166789	1.00[EUR][1000 genomes]
rs1632619	1.00[EUR][1000 genomes]
rs56836390	1.00[EUR][1000 genomes]
rs59470045	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59643776	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60175203	1.00[EUR][1000 genomes]
rs60949263	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7139220	1.00[EUR][1000 genomes]
rs7300790	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404500	1.00[EUR][1000 genomes]
rs73406722	1.00[EUR][1000 genomes]
rs73406751	1.00[EUR][1000 genomes]
rs73410812	1.00[EUR][1000 genomes]
rs73410821	1.00[EUR][1000 genomes]
rs73410841	1.00[EUR][1000 genomes]
rs7980464	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv976760	chr12:120577931-120587880	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 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	chr12:120563000-120588000	Strong transcription	HSMM	muscle
2	chr12:120563000-120596800	Strong transcription	Stomach Smooth Muscle	stomach
3	chr12:120563000-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:120563000-120629800	Strong transcription	Fetal Stomach	stomach
5	chr12:120563000-120630200	Strong transcription	Fetal Muscle Leg	muscle
6	chr12:120563200-120602800	Strong transcription	Brain Germinal Matrix	brain
7	chr12:120563200-120630400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:120563400-120616200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:120563400-120629200	Strong transcription	Fetal Intestine Small	intestine
10	chr12:120563400-120630200	Strong transcription	Fetal Thymus	thymus
11	chr12:120563600-120596400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120563600-120602400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:120563600-120603600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:120563600-120603800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:120563600-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:120563600-120626000	Strong transcription	Brain Cingulate Gyrus	brain
17	chr12:120563600-120626200	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr12:120563600-120629000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:120563600-120630200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:120563600-120630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:120563600-120630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:120563600-120630200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:120563600-120630200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:120563800-120602600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:120563800-120602600	Strong transcription	Primary T cells from cord blood	blood
26	chr12:120563800-120602600	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr12:120563800-120602800	Strong transcription	Dnd41	blood
28	chr12:120563800-120603600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:120563800-120629800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:120563800-120630000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:120563800-120630200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:120564000-120603600	Strong transcription	Brain Angular Gyrus	brain
33	chr12:120564000-120603800	Strong transcription	Thymus	Thymus
34	chr12:120564200-120594200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:120564200-120624400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:120564200-120629600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:120564400-120597000	Strong transcription	HepG2	liver
38	chr12:120564400-120602600	Strong transcription	Brain Hippocampus Middle	brain
39	chr12:120564400-120602600	Strong transcription	Placenta	Placenta
40	chr12:120564400-120602600	Strong transcription	HSMMtube	muscle
41	chr12:120564400-120603600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:120564400-120603600	Strong transcription	Rectal Smooth Muscle	rectum
43	chr12:120564400-120603600	Strong transcription	Right Ventricle	heart
44	chr12:120564400-120628600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:120564400-120631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:120564600-120589800	Strong transcription	Esophagus	oesophagus
47	chr12:120564600-120602800	Strong transcription	Ovary	ovary
48	chr12:120564600-120603800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:120564600-120603800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:120564800-120618000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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