Variant report

Variant	rs56363117
Chromosome Location	chr14:35559546-35559547
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	chr14:35500095..35502926-chr14:35557815..35560264,2	MCF-7	breast:
2	chr14:35557782..35559646-chr14:35560670..35562491,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10146133	0.87[ASN][1000 genomes]
rs11156874	0.87[ASN][1000 genomes]
rs11848309	0.87[ASN][1000 genomes]
rs11850487	0.96[ASN][1000 genomes]
rs12100841	0.96[ASN][1000 genomes]
rs12100944	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17103013	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17103033	0.88[ASN][1000 genomes]
rs17103044	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17103047	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17386684	0.87[ASN][1000 genomes]
rs17456067	0.87[ASN][1000 genomes]
rs1807162	0.87[ASN][1000 genomes]
rs2008130	0.96[ASN][1000 genomes]
rs2143948	0.96[ASN][1000 genomes]
rs2143949	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2415258	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34509212	0.87[ASN][1000 genomes]
rs4494460	0.87[ASN][1000 genomes]
rs55791227	0.96[ASN][1000 genomes]
rs55890055	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56142562	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57166048	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57338667	0.82[ASN][1000 genomes]
rs57411359	0.96[ASN][1000 genomes]
rs61060564	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61492899	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62625039	0.87[ASN][1000 genomes]
rs6571694	0.87[ASN][1000 genomes]
rs6571695	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7140462	0.96[ASN][1000 genomes]
rs7154292	0.96[ASN][1000 genomes]
rs7155697	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7156704	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7156770	0.96[ASN][1000 genomes]
rs7160889	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72664814	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72664816	0.96[ASN][1000 genomes]
rs72664819	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72664820	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72664829	0.96[ASN][1000 genomes]
rs72664840	0.87[ASN][1000 genomes]
rs72664843	0.87[ASN][1000 genomes]
rs72664849	0.80[ASN][1000 genomes]
rs72664854	0.87[ASN][1000 genomes]
rs72664855	0.87[ASN][1000 genomes]
rs72680622	0.83[ASN][1000 genomes]
rs72680641	0.83[ASN][1000 genomes]
rs72680648	0.91[ASN][1000 genomes]
rs72680652	0.96[ASN][1000 genomes]
rs72680655	0.96[ASN][1000 genomes]
rs72680657	0.96[ASN][1000 genomes]
rs72680662	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72680663	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8005079	0.96[ASN][1000 genomes]
rs8007337	0.87[ASN][1000 genomes]
rs8007346	0.87[ASN][1000 genomes]
rs8007575	0.96[ASN][1000 genomes]
rs8008066	0.96[ASN][1000 genomes]
rs8011195	0.87[ASN][1000 genomes]
rs8011242	0.96[ASN][1000 genomes]
rs8011549	0.96[ASN][1000 genomes]
rs8012905	0.92[ASN][1000 genomes]
rs8014760	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8016541	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8017547	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8018116	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8019182	0.96[ASN][1000 genomes]
rs8019482	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8019523	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8019700	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8019709	0.87[ASN][1000 genomes]
rs8019741	0.96[ASN][1000 genomes]
rs9888560	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9888561	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9888597	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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 target site	52 gene(s)	inside rSNPs	diseases
2	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	65 gene(s)	inside rSNPs	diseases
4	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	65 gene(s)	inside rSNPs	diseases
5	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	49 gene(s)	inside rSNPs	diseases
6	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv901612	chr14:35470049-35571651	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats 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 target site	27 gene(s)	inside rSNPs	diseases
8	nsv901613	chr14:35470049-35587767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
9	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv901614	chr14:35485748-35571651	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv1052800	chr14:35509858-35607117	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
14	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	nsv564265	chr14:35512335-35624831	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	38 gene(s)	inside rSNPs	diseases
16	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
17	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
19	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
22	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
23	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
24	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
25	nsv1050700	chr14:35548276-35639084	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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	21 gene(s)	inside rSNPs	diseases
26	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
27	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
2	chr14:35528800-35563200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
4	chr14:35530600-35563600	Weak transcription	Small Intestine	intestine
5	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
6	chr14:35531400-35563400	Weak transcription	Gastric	stomach
7	chr14:35538200-35581000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:35538400-35559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:35542000-35589600	Weak transcription	Fetal Brain Male	brain
10	chr14:35543200-35580800	Weak transcription	K562	blood
11	chr14:35545600-35559800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:35545600-35564600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:35545600-35568600	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:35545600-35569800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:35545600-35580800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:35545600-35582800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:35545600-35590000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:35545800-35566400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:35546000-35568000	Strong transcription	Osteobl	bone
20	chr14:35546000-35581200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:35546000-35585800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:35546000-35587200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:35546200-35560400	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:35546200-35564800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:35546200-35566000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:35546200-35585000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:35546800-35571800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:35547000-35580800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:35547200-35574400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr14:35547200-35577600	Strong transcription	Placenta	Placenta
31	chr14:35547400-35565800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:35547400-35574000	Strong transcription	Adipose Nuclei	Adipose
33	chr14:35547400-35577800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr14:35547400-35580600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:35548000-35563200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:35548000-35581000	Strong transcription	HepG2	liver
37	chr14:35548200-35580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:35548400-35578800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:35548600-35563400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:35549600-35569000	Strong transcription	Liver	Liver
41	chr14:35550200-35586000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:35550600-35559600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:35550800-35581000	Strong transcription	Dnd41	blood
44	chr14:35551000-35559800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:35551000-35572800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:35551400-35562800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:35551400-35563400	Weak transcription	NHLF	lung
48	chr14:35551600-35579400	Weak transcription	NHEK	skin
49	chr14:35552000-35586600	Strong transcription	Fetal Thymus	thymus
50	chr14:35552400-35562400	Strong transcription	Primary T cells from cord blood	blood

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