Variant report

Variant	rs643107
Chromosome Location	chr18:12014411-12014412
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11993860..11995510-chr18:12012854..12014653,2	K562	blood:

Variant related genes	Relation type
ENSG00000266955	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs586496	1.00[AMR][1000 genomes]
rs603364	1.00[AMR][1000 genomes]
rs615026	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs630821	1.00[AMR][1000 genomes]
rs639598	1.00[AMR][1000 genomes]
rs640434	1.00[AMR][1000 genomes]
rs659522	1.00[AMR][1000 genomes]
rs664515	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs664698	1.00[AMR][1000 genomes]
rs665562	1.00[AMR][1000 genomes]
rs683498	1.00[AMR][1000 genomes]
rs9949849	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription 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	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv528699	chr18:11989416-12029857	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
2	chr18:11993400-12016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:11996200-12014800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr18:11996200-12015400	Weak transcription	Brain Anterior Caudate	brain
5	chr18:11996600-12035000	Weak transcription	Primary T cells from cord blood	blood
6	chr18:11996800-12017200	Weak transcription	Fetal Thymus	thymus
7	chr18:11996800-12034400	Weak transcription	Primary B cells from cord blood	blood
8	chr18:11997000-12034400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:11998400-12015200	Weak transcription	Brain Hippocampus Middle	brain
10	chr18:11998400-12034000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr18:11998800-12029400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:11999000-12017400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr18:11999000-12019200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:11999000-12019400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr18:11999000-12019400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:11999000-12034000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr18:11999000-12035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr18:11999200-12015400	Weak transcription	HSMM	muscle
19	chr18:11999200-12035800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:11999800-12015600	Weak transcription	HSMMtube	muscle
21	chr18:12000800-12018400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr18:12002000-12028400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:12003600-12025600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr18:12003600-12027000	Strong transcription	Placenta	Placenta
25	chr18:12003800-12015200	Strong transcription	Adipose Nuclei	Adipose
26	chr18:12003800-12018600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr18:12004400-12015200	Strong transcription	Fetal Stomach	stomach
28	chr18:12004800-12014600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr18:12005400-12017600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr18:12005800-12014800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:12008200-12017800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr18:12008600-12018600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:12010000-12014800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:12010000-12015400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr18:12010000-12017400	Strong transcription	HepG2	liver
36	chr18:12010200-12026600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr18:12010400-12014600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr18:12010400-12015800	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr18:12010400-12016000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:12010400-12018800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr18:12010800-12015200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:12010800-12015400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr18:12011000-12016400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
44	chr18:12011400-12015800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr18:12012000-12015600	Weak transcription	NHLF	lung
46	chr18:12012200-12016400	Genic enhancers	Fetal Muscle Leg	muscle
47	chr18:12012200-12017600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr18:12012200-12017600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:12012400-12014600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr18:12012400-12014600	Weak transcription	Aorta	Aorta

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