Variant report

Variant	rs73408820
Chromosome Location	chr12:123402146-123402147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123378710..123380818-chr12:123397888..123402469,4	K562	blood:
2	chr12:123371574..123375041-chr12:123400711..123402843,3	MCF-7	breast:
3	chr12:123378389..123381690-chr12:123400568..123404300,4	MCF-7	breast:
4	chr12:123376693..123378580-chr12:123401920..123404894,2	MCF-7	breast:
5	chr12:123380536..123384809-chr12:123398917..123403904,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs34010146	1.00[AMR][1000 genomes]
rs55646110	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55796417	0.85[AMR][1000 genomes]
rs55813219	1.00[AMR][1000 genomes]
rs55830208	0.85[AMR][1000 genomes]
rs55939945	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55951195	1.00[AMR][1000 genomes]
rs56020503	0.85[AMR][1000 genomes]
rs56150478	0.85[AMR][1000 genomes]
rs56288804	0.85[AMR][1000 genomes]
rs56725866	0.85[AMR][1000 genomes]
rs57110420	1.00[AMR][1000 genomes]
rs57258703	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57310784	0.87[AMR][1000 genomes]
rs57863319	0.85[AMR][1000 genomes]
rs58025094	1.00[AMR][1000 genomes]
rs58462666	1.00[AMR][1000 genomes]
rs59081274	1.00[AMR][1000 genomes]
rs59211448	0.85[AMR][1000 genomes]
rs59379557	0.85[AMR][1000 genomes]
rs59526938	1.00[AMR][1000 genomes]
rs60341839	0.85[AMR][1000 genomes]
rs60739634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60809882	0.85[AMR][1000 genomes]
rs60888713	1.00[AMR][1000 genomes]
rs60920158	0.85[AMR][1000 genomes]
rs60987910	0.85[AMR][1000 genomes]
rs61061591	1.00[AMR][1000 genomes]
rs61377358	0.85[AMR][1000 genomes]
rs61516893	0.85[AMR][1000 genomes]
rs61546241	1.00[AMR][1000 genomes]
rs61592192	0.85[AMR][1000 genomes]
rs61677786	1.00[AMR][1000 genomes]
rs7295258	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406966	0.85[AMR][1000 genomes]
rs73406997	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408803	0.85[AMR][1000 genomes]
rs73408810	0.85[AMR][1000 genomes]
rs73408812	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408818	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408832	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408835	1.00[AMR][1000 genomes]
rs73408838	0.85[AMR][1000 genomes]
rs73408846	0.85[AMR][1000 genomes]
rs73408887	0.85[AMR][1000 genomes]
rs73408890	1.00[AMR][1000 genomes]
rs73408892	1.00[AMR][1000 genomes]
rs73408893	1.00[AMR][1000 genomes]
rs73408894	1.00[AMR][1000 genomes]
rs73408899	1.00[AMR][1000 genomes]
rs73411006	1.00[AMR][1000 genomes]
rs73411009	1.00[AMR][1000 genomes]
rs73411011	1.00[AMR][1000 genomes]
rs73411014	1.00[AMR][1000 genomes]
rs73411015	1.00[AMR][1000 genomes]
rs73411017	0.85[AMR][1000 genomes]
rs73411018	1.00[AMR][1000 genomes]
rs73411027	1.00[AMR][1000 genomes]
rs73411033	0.85[AMR][1000 genomes]
rs73411041	0.85[AMR][1000 genomes]
rs73411043	0.85[AMR][1000 genomes]
rs73411057	0.85[AMR][1000 genomes]
rs73411058	0.85[AMR][1000 genomes]
rs73411063	0.85[AMR][1000 genomes]
rs752164	0.85[AMR][1000 genomes]
rs7971535	0.82[AFR][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	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	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
4	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
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123395000-123402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:123395000-123402400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:123395000-123408400	Weak transcription	Fetal Brain Female	brain
4	chr12:123400800-123402600	Enhancers	NHEK	skin
5	chr12:123400800-123404000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr12:123400800-123404200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:123400800-123404400	Enhancers	Placenta	Placenta
8	chr12:123400800-123407200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:123401000-123402800	Flanking Active TSS	Hela-S3	cervix
10	chr12:123401000-123403000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:123401000-123405200	Enhancers	HMEC	breast
12	chr12:123401200-123402400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:123401200-123402600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:123401200-123402600	Enhancers	HSMM	muscle
15	chr12:123401200-123402600	Enhancers	NHDF-Ad	bronchial
16	chr12:123401200-123402800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:123401200-123402800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:123401200-123402800	Enhancers	Spleen	Spleen
19	chr12:123401200-123402800	Enhancers	NH-A	brain
20	chr12:123401200-123402800	Enhancers	NHLF	lung
21	chr12:123401200-123403000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:123401200-123403000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:123401200-123403000	Enhancers	Lung	lung
24	chr12:123401200-123403000	Enhancers	HSMMtube	muscle
25	chr12:123401200-123403000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:123401200-123403200	Enhancers	Fetal Muscle Leg	muscle
27	chr12:123401200-123403400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:123401200-123403600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:123401200-123403600	Enhancers	Fetal Heart	heart
30	chr12:123401200-123404400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:123401200-123405200	Enhancers	Fetal Intestine Large	intestine
32	chr12:123401400-123403000	Enhancers	Duodenum Mucosa	Duodenum
33	chr12:123401400-123417200	Weak transcription	Osteobl	bone
34	chr12:123401400-123425200	Weak transcription	Esophagus	oesophagus
35	chr12:123401400-123426000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:123401600-123403000	Enhancers	Colonic Mucosa	Colon
37	chr12:123401800-123402200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:123401800-123403000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:123401800-123403000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:123401800-123403000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:123401800-123403000	Enhancers	Left Ventricle	heart
42	chr12:123401800-123403200	Enhancers	Adipose Nuclei	Adipose
43	chr12:123401800-123405200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:123401800-123405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:123401800-123405400	Enhancers	Fetal Intestine Small	intestine
46	chr12:123401800-123405600	Enhancers	Stomach Mucosa	stomach
47	chr12:123402000-123402400	Flanking Active TSS	A549	lung
48	chr12:123402000-123402600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:123402000-123402600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:123402000-123402600	Flanking Active TSS	HepG2	liver

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