Variant report

Variant	rs188483406
Chromosome Location	chr14:35547002-35547003
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35542856..35545379-chr14:35545884..35547837,2	K562	blood:
2	chr14:35546558..35548524-chr14:35548647..35551587,2	K562	blood:
3	chr14:35545880..35548959-chr14:35590371..35593257,4	MCF-7	breast:
4	chr14:35513942..35517116-chr14:35546230..35550128,3	MCF-7	breast:
5	chr14:35524936..35527808-chr14:35546522..35548065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092020	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000258790	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv456204	chr14:35466584-35556498	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription 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	26 gene(s)	inside rSNPs	diseases
8	nsv564263	chr14:35466584-35556498	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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	26 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
2	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
3	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:35517200-35547200	Weak transcription	Brain Anterior Caudate	brain
5	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
6	chr14:35517600-35554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:35518000-35547400	Weak transcription	GM12878-XiMat	blood
8	chr14:35520200-35550800	Weak transcription	NHLF	lung
9	chr14:35521000-35559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:35526600-35547200	Weak transcription	Brain Angular Gyrus	brain
11	chr14:35526600-35552400	Weak transcription	Brain Substantia Nigra	brain
12	chr14:35528200-35547400	Weak transcription	Fetal Thymus	thymus
13	chr14:35528200-35552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:35528200-35559400	Weak transcription	Colonic Mucosa	Colon
15	chr14:35528600-35552400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:35528600-35552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:35528800-35563200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:35529000-35552000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:35529400-35555800	Weak transcription	Aorta	Aorta
20	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
21	chr14:35530400-35550600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:35530600-35547200	Weak transcription	HMEC	breast
23	chr14:35530600-35548000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:35530600-35550200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:35530600-35552400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:35530600-35563600	Weak transcription	Small Intestine	intestine
27	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
28	chr14:35530800-35552000	Weak transcription	Hela-S3	cervix
29	chr14:35531400-35547400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:35531400-35550800	Weak transcription	HUVEC	blood vessel
31	chr14:35531400-35552600	Weak transcription	Pancreas	Pancrea
32	chr14:35531400-35563400	Weak transcription	Gastric	stomach
33	chr14:35538200-35547400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:35538200-35581000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:35538400-35547400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:35538400-35547400	Weak transcription	Ovary	ovary
37	chr14:35538400-35548800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:35538400-35550800	Weak transcription	Dnd41	blood
39	chr14:35538400-35552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:35538400-35559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:35539000-35552400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:35542000-35589600	Weak transcription	Fetal Brain Male	brain
43	chr14:35542200-35547200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:35542200-35547400	Weak transcription	Adipose Nuclei	Adipose
45	chr14:35542400-35554000	Weak transcription	Psoas Muscle	Psoas
46	chr14:35542600-35552600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:35542800-35547400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:35543000-35547200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:35543000-35547400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:35543000-35548400	Weak transcription	Muscle Satellite Cultured Cells	--

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