Variant report

Variant	rs73419538
Chromosome Location	chr18:13101227-13101228
allele	A/G
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	chr18:13100106-13101516	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13099273..13102130-chr18:13123064..13124628,2	MCF-7	breast:

Variant related genes	Relation type
CEP192	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048340	1.00[AMR][1000 genomes]
rs12327252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13381568	1.00[AMR][1000 genomes]
rs28763296	1.00[AMR][1000 genomes]
rs57834325	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407728	1.00[AMR][1000 genomes]
rs73416997	1.00[AMR][1000 genomes]
rs73417553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73419105	1.00[AMR][1000 genomes]
rs73419515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7506801	0.95[AFR][1000 genomes];1.00[AMR][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	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13075400-13105400	Weak transcription	Psoas Muscle	Psoas
3	chr18:13086000-13109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr18:13089400-13122200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr18:13090600-13109200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr18:13091200-13110800	Weak transcription	Right Atrium	heart
8	chr18:13092800-13106800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr18:13093000-13109400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:13093000-13111200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:13093400-13111200	Strong transcription	Fetal Muscle Leg	muscle
12	chr18:13095400-13109600	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr18:13096800-13105400	Weak transcription	Fetal Brain Male	brain
14	chr18:13097200-13101400	Weak transcription	Pancreas	Pancrea
15	chr18:13097200-13103800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:13097200-13105000	Weak transcription	NHDF-Ad	bronchial
17	chr18:13097200-13118800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr18:13097400-13101400	Weak transcription	Brain Substantia Nigra	brain
19	chr18:13097400-13102400	Weak transcription	HSMMtube	muscle
20	chr18:13097400-13102600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:13097400-13105000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr18:13097400-13105000	Weak transcription	Fetal Kidney	kidney
23	chr18:13097600-13101600	Weak transcription	Aorta	Aorta
24	chr18:13097600-13102400	Weak transcription	Colon Smooth Muscle	Colon
25	chr18:13097600-13102800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr18:13097600-13103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr18:13097600-13104200	Weak transcription	Small Intestine	intestine
28	chr18:13097600-13111600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr18:13098400-13102400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:13098400-13109400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr18:13098600-13106400	Strong transcription	Thymus	Thymus
32	chr18:13098600-13108200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:13098800-13106600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:13098800-13107800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr18:13098800-13121200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:13099000-13109600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:13099200-13106200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr18:13099200-13107200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:13099200-13108000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr18:13099200-13108000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:13099200-13108200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr18:13099200-13108600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr18:13099200-13109200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr18:13099200-13109200	Strong transcription	Brain Anterior Caudate	brain
45	chr18:13099200-13109200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:13099200-13109200	Strong transcription	A549	lung
47	chr18:13099200-13109400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr18:13099200-13109600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr18:13099200-13109600	Strong transcription	Primary B cells from cord blood	blood
50	chr18:13099200-13109600	Strong transcription	Placenta	Placenta

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