Variant report

Variant	rs4981817
Chromosome Location	chr14:31526250-31526251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12435833	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36025583	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825741	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981818	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571388	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6571389	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7155228	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156330	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8021054	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
3	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:31501200-31527400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
6	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:31503400-31528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:31507000-31537600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
10	chr14:31507800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:31508000-31538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr14:31508200-31537600	Weak transcription	Primary T cells from cord blood	blood
14	chr14:31512800-31526400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:31517000-31527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:31517200-31529400	Weak transcription	Right Ventricle	heart
17	chr14:31518000-31527800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:31520400-31528800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:31522600-31528000	Weak transcription	Stomach Mucosa	stomach
20	chr14:31522800-31527800	Weak transcription	Pancreas	Pancrea
21	chr14:31522800-31527800	Weak transcription	Psoas Muscle	Psoas
22	chr14:31522800-31528000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:31522800-31552800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:31522800-31553600	Weak transcription	Lung	lung
25	chr14:31523000-31527600	Weak transcription	Fetal Intestine Small	intestine
26	chr14:31523000-31527800	Weak transcription	Placenta	Placenta
27	chr14:31523000-31527800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:31523000-31528000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:31523000-31528000	Weak transcription	Liver	Liver
30	chr14:31523000-31528800	Weak transcription	Right Atrium	heart
31	chr14:31523000-31529000	Weak transcription	Ovary	ovary
32	chr14:31523200-31527200	Weak transcription	HepG2	liver
33	chr14:31523200-31528000	Weak transcription	NHLF	lung
34	chr14:31523200-31528600	Weak transcription	NHDF-Ad	bronchial
35	chr14:31523400-31528400	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:31524800-31526400	Weak transcription	HSMMtube	muscle
37	chr14:31524800-31528200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:31524800-31528400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:31525000-31528200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:31525000-31535400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:31525600-31528200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:31525800-31528200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:31525800-31530000	Enhancers	Hela-S3	cervix
44	chr14:31526000-31528400	Enhancers	HMEC	breast
45	chr14:31526000-31528400	Enhancers	NHEK	skin
46	chr14:31526000-31530000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:31526000-31530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:31526200-31526600	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:31526200-31526600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:31526200-31526600	Enhancers	A549	lung

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