Variant report

Variant	rs17100988
Chromosome Location	chr14:63757123-63757124
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10131665	1.00[EUR][1000 genomes]
rs11845716	1.00[EUR][1000 genomes]
rs11845811	1.00[EUR][1000 genomes]
rs11845913	1.00[EUR][1000 genomes]
rs1467424	1.00[EUR][1000 genomes]
rs17100884	1.00[EUR][1000 genomes]
rs17100885	1.00[EUR][1000 genomes]
rs17100924	1.00[EUR][1000 genomes]
rs17100980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17100987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17100990	1.00[EUR][1000 genomes]
rs17100992	1.00[EUR][1000 genomes]
rs17100995	1.00[EUR][1000 genomes]
rs17101002	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1955672	1.00[EUR][1000 genomes]
rs1957780	1.00[EUR][1000 genomes]
rs4902222	1.00[EUR][1000 genomes]
rs56713551	1.00[EUR][1000 genomes]
rs57714062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57768197	1.00[EUR][1000 genomes]
rs58476414	1.00[AMR][1000 genomes]
rs58737358	1.00[EUR][1000 genomes]
rs59466499	1.00[EUR][1000 genomes]
rs60068448	1.00[EUR][1000 genomes]
rs60078514	1.00[EUR][1000 genomes]
rs60444475	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61302639	1.00[EUR][1000 genomes]
rs61664340	1.00[EUR][1000 genomes]
rs6573502	1.00[EUR][1000 genomes]
rs7156973	1.00[EUR][1000 genomes]
rs7157776	1.00[EUR][1000 genomes]
rs73268396	1.00[EUR][1000 genomes]
rs7342496	1.00[EUR][1000 genomes]
rs7342500	1.00[EUR][1000 genomes]
rs737571	1.00[EUR][1000 genomes]
rs74060034	1.00[EUR][1000 genomes]
rs74060038	1.00[EUR][1000 genomes]
rs74060041	1.00[EUR][1000 genomes]
rs74060043	1.00[EUR][1000 genomes]
rs74060101	1.00[EUR][1000 genomes]
rs742905	1.00[EUR][1000 genomes]
rs761550	1.00[EUR][1000 genomes]
rs8007258	1.00[EUR][1000 genomes]
rs8010073	1.00[EUR][1000 genomes]
rs8012345	1.00[EUR][1000 genomes]
rs8014212	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv521404	chr14:63741113-63758106	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv431011	chr14:63743247-63866686	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1051684	chr14:63752916-63867677	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2751279	chr14:63754363-63871416	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:63730800-63766000	Weak transcription	Spleen	Spleen
2	chr14:63738000-63757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:63739400-63759400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:63740800-63762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:63740800-63768000	Weak transcription	Right Ventricle	heart
6	chr14:63741000-63757600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:63744000-63757600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:63744000-63761800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:63747000-63757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:63747000-63761200	Strong transcription	NH-A	brain
11	chr14:63747400-63760200	Strong transcription	HUVEC	blood vessel
12	chr14:63750600-63757600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:63750800-63757400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:63751400-63762200	Weak transcription	Right Atrium	heart
15	chr14:63751600-63762400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:63752000-63757600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:63752000-63761600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:63752000-63762000	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:63752200-63760600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:63752200-63762000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:63752400-63760400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:63752400-63760800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:63753000-63757400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:63753000-63757800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:63753000-63757800	Weak transcription	Pancreas	Pancrea
26	chr14:63753200-63757600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:63753200-63757600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:63753200-63757600	Weak transcription	Lung	lung
29	chr14:63753200-63761400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:63753400-63757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:63754600-63758200	Strong transcription	Aorta	Aorta
32	chr14:63754800-63760600	Strong transcription	Fetal Stomach	stomach
33	chr14:63755200-63757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:63755200-63757600	Weak transcription	Ovary	ovary
35	chr14:63755200-63757800	Weak transcription	Esophagus	oesophagus
36	chr14:63755200-63761600	Weak transcription	Adipose Nuclei	Adipose
37	chr14:63755200-63762000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:63755400-63757800	Weak transcription	Fetal Lung	lung
39	chr14:63755600-63757600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:63755800-63757400	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:63755800-63757600	Weak transcription	Left Ventricle	heart
42	chr14:63756000-63757600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:63756000-63757600	Weak transcription	Fetal Intestine Large	intestine
44	chr14:63756200-63757400	Weak transcription	NHDF-Ad	bronchial
45	chr14:63756200-63757600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:63756200-63757800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:63756200-63757800	Weak transcription	GM12878-XiMat	blood
48	chr14:63756200-63758400	Weak transcription	Colonic Mucosa	Colon
49	chr14:63756200-63764400	Weak transcription	Small Intestine	intestine
50	chr14:63756400-63758400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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