Variant report

Variant	rs56971743
Chromosome Location	chr14:104264071-104264072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11623518	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11625216	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11625521	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11625613	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11625676	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11626714	0.87[EUR][1000 genomes]
rs11627337	0.91[EUR][1000 genomes]
rs11851462	0.85[EUR][1000 genomes]
rs12432763	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12435668	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12436297	0.93[EUR][1000 genomes]
rs17101871	0.93[EUR][1000 genomes]
rs45444495	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs45604035	0.87[EUR][1000 genomes]
rs4641668	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs57560950	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57952067	0.83[EUR][1000 genomes]
rs58369398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58411502	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59320483	0.93[EUR][1000 genomes]
rs60431526	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs730114	0.83[EUR][1000 genomes]
rs73350555	0.86[EUR][1000 genomes]
rs73350563	0.81[EUR][1000 genomes]
rs73367074	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8006493	0.93[EUR][1000 genomes]
rs8016928	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
2	chr14:104201000-104267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:104203200-104267800	Weak transcription	Psoas Muscle	Psoas
4	chr14:104209400-104264800	Weak transcription	Brain Substantia Nigra	brain
5	chr14:104211800-104265000	Weak transcription	Hela-S3	cervix
6	chr14:104215400-104273200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:104216000-104267600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:104216200-104264400	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:104216200-104264600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:104216200-104267800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:104216200-104268800	Weak transcription	Brain Angular Gyrus	brain
12	chr14:104218400-104277800	Weak transcription	Spleen	Spleen
13	chr14:104218800-104270200	Weak transcription	Ovary	ovary
14	chr14:104228600-104265000	Weak transcription	Fetal Kidney	kidney
15	chr14:104228800-104270200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:104229200-104267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:104230600-104271600	Weak transcription	Esophagus	oesophagus
18	chr14:104236800-104272800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:104238800-104264400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:104238800-104270400	Weak transcription	HUVEC	blood vessel
21	chr14:104239000-104267600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:104239000-104272400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:104240800-104268000	Weak transcription	Fetal Heart	heart
24	chr14:104241000-104274400	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:104245200-104271400	Weak transcription	Right Ventricle	heart
26	chr14:104249600-104267600	Weak transcription	Adipose Nuclei	Adipose
27	chr14:104250200-104267800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:104250400-104267800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:104251600-104265000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:104254800-104264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:104255200-104267600	Weak transcription	HMEC	breast
32	chr14:104257400-104268400	Weak transcription	Placenta	Placenta
33	chr14:104257600-104272000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:104257800-104284000	Weak transcription	Gastric	stomach
35	chr14:104258000-104267600	Weak transcription	HepG2	liver
36	chr14:104258800-104274800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:104260600-104267800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:104261200-104267600	Weak transcription	Fetal Intestine Large	intestine
39	chr14:104261800-104267800	Weak transcription	Lung	lung
40	chr14:104261800-104268800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:104262000-104264400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:104262000-104267200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:104262000-104267200	Weak transcription	Left Ventricle	heart
44	chr14:104262200-104267200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:104262200-104267400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:104262200-104267400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:104262200-104267600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:104262200-104267600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:104262400-104265400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:104262400-104266200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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