Variant report

Variant	rs57361530
Chromosome Location	chr14:104216672-104216673
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	chr14:104216548-104216687	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103987435..103989810-chr14:104216134..104218221,2	K562	blood:

Variant related genes	Relation type
PPP1R13B	TF binding region
ENSG00000166165	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1078915	1.00[AMR][1000 genomes]
rs3212050	1.00[AMR][1000 genomes]
rs3212089	1.00[AMR][1000 genomes]
rs3212107	1.00[AMR][1000 genomes]
rs56074527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56178734	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59026110	1.00[AMR][1000 genomes]
rs59653383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59851270	1.00[AMR][1000 genomes]
rs60050483	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60707289	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147292	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149566	1.00[AMR][1000 genomes]
rs7158230	1.00[AMR][1000 genomes]
rs74085290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086466	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086471	1.00[AMR][1000 genomes]
rs74086472	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086576	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088712	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8004709	1.00[AMR][1000 genomes]
rs879724	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs909133	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	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:104194200-104220400	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
4	chr14:104198000-104218800	Strong transcription	Gastric	stomach
5	chr14:104198200-104224800	Strong transcription	Left Ventricle	heart
6	chr14:104200000-104220200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:104200200-104219600	Weak transcription	A549	lung
8	chr14:104200400-104231800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:104200600-104216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:104201000-104267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:104203000-104220200	Weak transcription	NHLF	lung
12	chr14:104203200-104216800	Strong transcription	Pancreas	Pancrea
13	chr14:104203200-104220200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:104203200-104224600	Weak transcription	Fetal Brain Male	brain
15	chr14:104203200-104267800	Weak transcription	Psoas Muscle	Psoas
16	chr14:104203600-104220600	Strong transcription	Fetal Stomach	stomach
17	chr14:104204200-104220600	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:104204800-104216800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr14:104206200-104222800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:104206400-104217600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:104206600-104219200	Weak transcription	Stomach Mucosa	stomach
22	chr14:104206800-104219800	Weak transcription	Brain Germinal Matrix	brain
23	chr14:104206800-104222800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:104207400-104219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:104208000-104224600	Weak transcription	Fetal Brain Female	brain
26	chr14:104208000-104224600	Weak transcription	Fetal Lung	lung
27	chr14:104208400-104220600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:104208400-104228200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:104208800-104260000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:104209000-104228200	Weak transcription	Fetal Kidney	kidney
31	chr14:104209400-104217800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:104209400-104217800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:104209400-104264800	Weak transcription	Brain Substantia Nigra	brain
34	chr14:104209800-104216800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:104209800-104218800	Strong transcription	Lung	lung
36	chr14:104210400-104220400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:104210400-104226800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:104211200-104216800	Strong transcription	NHEK	skin
39	chr14:104211800-104265000	Weak transcription	Hela-S3	cervix
40	chr14:104213400-104216800	Strong transcription	Esophagus	oesophagus
41	chr14:104213600-104218800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:104213600-104219600	Weak transcription	NH-A	brain
43	chr14:104213600-104222000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:104214200-104216800	Strong transcription	Liver	Liver
45	chr14:104214800-104216800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:104214800-104218800	Strong transcription	Ovary	ovary
47	chr14:104215000-104256800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr14:104215200-104216800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:104215200-104218400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:104215200-104223200	Weak transcription	Fetal Muscle Leg	muscle

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