Variant report

Variant	rs537417341
Chromosome Location	chr14:36781054-36781055
allele	A/G
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	chr14:36781014-36781202	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36779773..36781769-chr14:36782151..36784795,2	K562	blood:
2	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	chr14:36765000-36781200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:36765200-36781400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:36765400-36781400	Strong transcription	Placenta	Placenta
6	chr14:36765400-36788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:36765800-36781200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:36765800-36782200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:36766000-36781400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:36766000-36783400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:36766200-36781200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:36766200-36781200	Strong transcription	Fetal Thymus	thymus
13	chr14:36766200-36781200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr14:36766200-36781400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:36766200-36785400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:36766600-36788000	Weak transcription	Fetal Heart	heart
17	chr14:36767000-36781400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr14:36767400-36789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:36767400-36789200	Weak transcription	Spleen	Spleen
20	chr14:36769600-36781400	Strong transcription	Primary B cells from cord blood	blood
21	chr14:36770400-36781200	Strong transcription	HepG2	liver
22	chr14:36770600-36781200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:36770600-36782800	Weak transcription	Hela-S3	cervix
24	chr14:36771800-36781200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:36771800-36781200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:36771800-36783200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:36772000-36781200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:36772000-36781400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:36772000-36781400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:36772000-36781400	Strong transcription	Liver	Liver
31	chr14:36772200-36781200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:36772200-36781200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:36772400-36781200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:36772600-36788800	Weak transcription	Stomach Mucosa	stomach
35	chr14:36773400-36789200	Weak transcription	Esophagus	oesophagus
36	chr14:36773800-36781200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:36774000-36781200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:36774000-36781200	Strong transcription	GM12878-XiMat	blood
39	chr14:36776000-36781200	Strong transcription	Brain Angular Gyrus	brain
40	chr14:36776000-36781200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:36776000-36781200	Strong transcription	HUVEC	blood vessel
42	chr14:36776000-36781400	Strong transcription	Adipose Nuclei	Adipose
43	chr14:36776200-36781200	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr14:36776600-36781400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr14:36776800-36781200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:36778400-36785600	Weak transcription	HMEC	breast
47	chr14:36778800-36781200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:36779200-36788600	Weak transcription	Fetal Intestine Small	intestine
49	chr14:36779400-36781200	Strong transcription	NH-A	brain
50	chr14:36779400-36789000	Weak transcription	Colonic Mucosa	Colon

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