Variant report

Variant	rs57104210
Chromosome Location	chr18:13051581-13051582
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13030155..13031779-chr18:13051072..13053122,2	K562	blood:
2	chr18:13045915..13049710-chr18:13050964..13055431,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16940057	0.83[AFR][1000 genomes]
rs16940075	0.83[AFR][1000 genomes]
rs16940084	0.83[AFR][1000 genomes]
rs1851569	0.83[AFR][1000 genomes]
rs2027698	0.83[AFR][1000 genomes]
rs57697412	0.83[AFR][1000 genomes]
rs59126396	0.83[AFR][1000 genomes]
rs59469521	1.00[AMR][1000 genomes]
rs59483039	0.83[AFR][1000 genomes]
rs59546709	1.00[AMR][1000 genomes]
rs61739747	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7232442	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7243492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7245341	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
2	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:13016800-13053200	Weak transcription	Esophagus	oesophagus
4	chr18:13017200-13056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
6	chr18:13028400-13052000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:13032000-13056000	Weak transcription	HSMMtube	muscle
8	chr18:13033000-13052200	Weak transcription	Fetal Brain Male	brain
9	chr18:13033400-13053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:13036800-13051800	Weak transcription	NHLF	lung
11	chr18:13036800-13053200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr18:13040200-13051800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr18:13041600-13063600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr18:13041800-13058400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr18:13041800-13064400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr18:13043200-13053200	Weak transcription	Brain Germinal Matrix	brain
17	chr18:13043200-13054000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:13043200-13056000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:13043200-13058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:13043200-13058600	Weak transcription	Fetal Heart	heart
21	chr18:13043200-13077800	Strong transcription	Dnd41	blood
22	chr18:13043400-13051800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr18:13045200-13052000	Strong transcription	Primary T cells from cord blood	blood
24	chr18:13045400-13063800	Strong transcription	Fetal Thymus	thymus
25	chr18:13045600-13051800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr18:13045600-13051800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:13045600-13053400	Strong transcription	K562	blood
28	chr18:13045600-13062400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr18:13045600-13063200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr18:13045800-13056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr18:13045800-13057000	Strong transcription	A549	lung
32	chr18:13045800-13062400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:13045800-13063800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr18:13046000-13051800	Strong transcription	GM12878-XiMat	blood
35	chr18:13046000-13057600	Strong transcription	Adipose Nuclei	Adipose
36	chr18:13046000-13058200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:13046000-13060600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr18:13046000-13062200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr18:13046000-13062200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:13046000-13062200	Strong transcription	Thymus	Thymus
41	chr18:13046000-13062400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr18:13046000-13062400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr18:13046000-13062400	Strong transcription	Fetal Intestine Large	intestine
44	chr18:13046000-13062400	Strong transcription	Fetal Muscle Leg	muscle
45	chr18:13046000-13062400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr18:13046000-13063400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr18:13046000-13078600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:13046400-13052000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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