Variant report

Variant	rs56774587
Chromosome Location	chr18:12951451-12951452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12949844..12951460-chr18:12965641..12968240,2	K562	blood:
2	chr18:12726304..12729223-chr18:12948825..12951791,2	K562	blood:
3	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
4	chr18:12706059..12708008-chr18:12949881..12951466,2	K562	blood:
5	chr18:12950305..12952653-chr18:12960461..12963058,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101639	Chromatin interaction
ENSG00000266969	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3809913	0.89[ASN][1000 genomes]
rs59809756	0.85[AMR][1000 genomes]
rs62095795	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription 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	68 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	esv3450694	chr18:12933001-12955144	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12948800-12951600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr18:12948800-12951800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr18:12948800-12953400	Weak transcription	HUVEC	blood vessel
4	chr18:12948800-12954400	Weak transcription	NHDF-Ad	bronchial
5	chr18:12948800-12957600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr18:12948800-12958200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr18:12948800-12958200	Weak transcription	Left Ventricle	heart
8	chr18:12948800-12958400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr18:12948800-12958400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:12948800-12963200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:12948800-12963200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:12948800-12963200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr18:12948800-12963200	Weak transcription	Colon Smooth Muscle	Colon
14	chr18:12948800-12963600	Weak transcription	Esophagus	oesophagus
15	chr18:12948800-12971000	Weak transcription	Ovary	ovary
16	chr18:12948800-12971600	Weak transcription	Pancreas	Pancrea
17	chr18:12948800-12976600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr18:12948800-12989000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:12949000-12952400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr18:12949000-12952400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr18:12949000-12952600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr18:12949000-12953000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr18:12949000-12953000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr18:12949000-12953200	Weak transcription	NH-A	brain
25	chr18:12949000-12953800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:12949000-12954600	Weak transcription	HSMMtube	muscle
27	chr18:12949000-12957400	Weak transcription	Fetal Lung	lung
28	chr18:12949000-12957400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr18:12949000-12957600	Weak transcription	Brain Angular Gyrus	brain
30	chr18:12949000-12957600	Weak transcription	Fetal Kidney	kidney
31	chr18:12949000-12963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr18:12949000-12963200	Weak transcription	NHLF	lung
33	chr18:12949000-12971600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr18:12949000-12975400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr18:12949200-12951600	Enhancers	Lung	lung
36	chr18:12949200-12951800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr18:12949200-12952200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:12949200-12953200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:12949200-12954200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr18:12949200-12954800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:12949200-12957200	Weak transcription	Adipose Nuclei	Adipose
42	chr18:12949200-12957200	Weak transcription	Brain Germinal Matrix	brain
43	chr18:12949200-12957400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr18:12949200-12957600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:12949200-12958200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr18:12949200-12958200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:12949200-12960800	Weak transcription	Fetal Heart	heart
48	chr18:12949200-12960800	Weak transcription	Stomach Mucosa	stomach
49	chr18:12949200-12961000	Weak transcription	Colonic Mucosa	Colon
50	chr18:12949200-12963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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