Variant report

Variant	rs539931545
Chromosome Location	chr14:36781983-36781984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:36781961-36782014	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36778592..36784393-chr14:36785409..36790832,9	K562	blood:

Variant related genes	Relation type
MBIP	TF binding region
ENSG00000151332	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv2751271	chr14:36745649-36782949	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv534143	chr14:36747497-36787893	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2752577	chr14:36768276-36805529	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1040487	chr14:36770813-36805621	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832771	chr14:36771007-36964041	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1054427	chr14:36780743-36819931	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36761000-36785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:36764400-36784000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:36765400-36788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:36765800-36782200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:36766000-36783400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:36766200-36785400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:36766600-36788000	Weak transcription	Fetal Heart	heart
8	chr14:36767400-36789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:36767400-36789200	Weak transcription	Spleen	Spleen
10	chr14:36770600-36782800	Weak transcription	Hela-S3	cervix
11	chr14:36771800-36783200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:36772600-36788800	Weak transcription	Stomach Mucosa	stomach
13	chr14:36773400-36789200	Weak transcription	Esophagus	oesophagus
14	chr14:36778400-36785600	Weak transcription	HMEC	breast
15	chr14:36779200-36788600	Weak transcription	Fetal Intestine Small	intestine
16	chr14:36779400-36789000	Weak transcription	Colonic Mucosa	Colon
17	chr14:36780400-36788800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:36780400-36789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:36780400-36789200	Weak transcription	Small Intestine	intestine
20	chr14:36780600-36782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:36780600-36788400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:36780600-36788400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:36780600-36788400	Weak transcription	Fetal Stomach	stomach
24	chr14:36780600-36788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:36780600-36788600	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:36780600-36789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:36780800-36782400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:36780800-36782400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:36780800-36782600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:36780800-36782600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:36780800-36783000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:36780800-36783800	Weak transcription	Brain Germinal Matrix	brain
33	chr14:36780800-36784400	Weak transcription	Brain Substantia Nigra	brain
34	chr14:36780800-36786000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:36780800-36787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr14:36780800-36788000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr14:36780800-36788000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:36780800-36788600	Weak transcription	Thymus	Thymus
41	chr14:36781000-36782200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:36781000-36782200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:36781000-36782200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:36781000-36782400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:36781000-36782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:36781000-36782400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:36781000-36782400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr14:36781000-36782400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:36781000-36782400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:36781000-36782400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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