Variant report

Variant	rs7967118
Chromosome Location	chr12:123571503-123571504
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123570325..123572939-chr12:123584835..123587723,2	K562	blood:
2	chr12:123463347..123466075-chr12:123569459..123571842,3	MCF-7	breast:
3	chr12:123569324..123574207-chr12:123574392..123579398,5	K562	blood:
4	chr12:123558670..123560288-chr12:123570276..123571928,2	MCF-7	breast:
5	chr12:123564490..123568285-chr12:123569418..123571923,3	MCF-7	breast:
6	chr12:123558779..123562598-chr12:123568640..123572609,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000251497	Chromatin interaction
ENSG00000182196	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1568918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3782289	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4148857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4148864	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4427600	1.00[YRI][hapmap]
rs4759360	0.87[EUR][1000 genomes]
rs4759362	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs596940	1.00[ASN][1000 genomes]
rs7398697	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123560600-123574200	Weak transcription	Gastric	stomach
2	chr12:123561000-123578800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
5	chr12:123562000-123576200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:123562200-123572600	Weak transcription	K562	blood
7	chr12:123562400-123586600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:123565000-123571800	Enhancers	Right Ventricle	heart
9	chr12:123566400-123571600	Enhancers	Right Atrium	heart
10	chr12:123566400-123572000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:123566600-123571600	Enhancers	Lung	lung
12	chr12:123567400-123588000	Enhancers	Left Ventricle	heart
13	chr12:123567800-123571600	Enhancers	Fetal Muscle Leg	muscle
14	chr12:123568400-123571600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:123568600-123578000	Weak transcription	Colonic Mucosa	Colon
16	chr12:123568800-123571600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:123568800-123571800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:123568800-123576600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:123569000-123574000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:123569200-123578800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:123569200-123579400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:123569400-123574600	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:123569600-123571800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:123569600-123573800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:123569800-123571600	Enhancers	Brain Angular Gyrus	brain
26	chr12:123569800-123576200	Weak transcription	Ovary	ovary
27	chr12:123569800-123578200	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:123569800-123579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:123570000-123574800	Enhancers	Primary B cells from cord blood	blood
30	chr12:123570000-123579800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:123570600-123571800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:123570600-123571800	Weak transcription	Brain Substantia Nigra	brain
33	chr12:123570600-123572600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:123570600-123573200	Weak transcription	GM12878-XiMat	blood
35	chr12:123570600-123573400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:123570600-123573400	Weak transcription	Psoas Muscle	Psoas
37	chr12:123570600-123573400	Weak transcription	HSMMtube	muscle
38	chr12:123570600-123573400	Weak transcription	NH-A	brain
39	chr12:123570600-123573400	Weak transcription	NHDF-Ad	bronchial
40	chr12:123570600-123573800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:123570600-123574000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:123570600-123578600	Weak transcription	Aorta	Aorta
43	chr12:123570600-123578600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:123570600-123578600	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:123570600-123578800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:123570800-123571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:123570800-123571600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:123570800-123572800	Weak transcription	HSMM	muscle
49	chr12:123570800-123573000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:123570800-123573200	Weak transcription	Liver	Liver

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