Variant report

Variant	rs558944965
Chromosome Location	chr5:176918244-176918245
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	chr5:176918173-176918943	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr5:176918224-176918955	ECC-1	luminal epithelium:	n/a	chr5:176918684-176918693 chr5:176918582-176918591
3	POLR2A	chr5:176918073-176918945	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr5:176916778-176918960	HUVEC	blood vessel:	n/a	n/a
5	ZBTB7A	chr5:176918054-176918364	K562	blood:	n/a	n/a
6	CTCF	chr5:176917657-176919006	A549	lung:	n/a	chr5:176918574-176918592 chr5:176918678-176918699 chr5:176918579-176918589 chr5:176918679-176918688 chr5:176918577-176918590 chr5:176918577-176918590 chr5:176918679-176918692 chr5:176918677-176918693 chr5:176918681-176918691 chr5:176918574-176918587 chr5:176918575-176918591 chr5:176918679-176918692 chr5:176918734-176918747 chr5:176918576-176918597 chr5:176918676-176918694 chr5:176918577-176918586
7	POLR2A	chr5:176917862-176918859	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr5:176918232-176918878	K562	blood:	n/a	n/a
9	POLR2A	chr5:176917857-176918949	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr5:176918239-176918963	K562	blood:	n/a	chr5:176918574-176918592 chr5:176918678-176918699 chr5:176918579-176918589 chr5:176918679-176918688 chr5:176918577-176918590 chr5:176918577-176918590 chr5:176918679-176918692 chr5:176918677-176918693 chr5:176918681-176918691 chr5:176918574-176918587 chr5:176918575-176918591 chr5:176918679-176918692 chr5:176918734-176918747 chr5:176918576-176918597 chr5:176918676-176918694 chr5:176918577-176918586
11	POLR2A	chr5:176918171-176918894	K562	blood:	n/a	n/a
12	POLR2A	chr5:176918237-176918924	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr5:176918185-176919002	HCT-116	colon:	n/a	chr5:176918574-176918592 chr5:176918678-176918699 chr5:176918579-176918589 chr5:176918679-176918688 chr5:176918577-176918590 chr5:176918577-176918590 chr5:176918679-176918692 chr5:176918677-176918693 chr5:176918681-176918691 chr5:176918574-176918587 chr5:176918575-176918591 chr5:176918679-176918692 chr5:176918734-176918747 chr5:176918576-176918597 chr5:176918676-176918694 chr5:176918577-176918586
14	POLR2A	chr5:176918062-176918923	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr5:176917559-176918988	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:176917877-176925482	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZBTB7A	chr5:176918244-176919048	ECC-1	luminal epithelium:	n/a	chr5:176918684-176918693 chr5:176918582-176918591
18	MAZ	chr5:176917654-176918992	IMR90	lung:	n/a	chr5:176918750-176918759
19	JUN	chr5:176918081-176918932	K562	blood:	n/a	n/a
20	POLR2A	chr5:176915763-176926210	K562	blood:	n/a	n/a
21	POLR2A	chr5:176917936-176918891	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:176918064..176919206-chr5:176927577..176928653,10	K562	blood:
2	chr5:176918128..176919148-chr5:176927678..176928761,5	MCF-7	breast:
3	chr5:176732064..176734161-chr5:176917891..176920050,2	K562	blood:
4	chr5:176884330..176885207-chr5:176918169..176919101,2	K562	blood:

Variant related genes	Relation type
ENSG00000248996	TF binding region
ENSG00000169230	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv883158	chr5:176726635-176931706	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv883160	chr5:176740996-176952919	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
5	nsv883161	chr5:176754722-176958397	Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	nsv1020334	chr5:176779108-176954933	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
7	nsv883164	chr5:176780545-177003616	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
8	esv1816147	chr5:176787037-176966509	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv883166	chr5:176817636-176940384	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
10	nsv883170	chr5:176824137-176952919	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv883173	chr5:176842474-176931706	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
12	nsv883174	chr5:176842474-176940384	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
13	nsv883175	chr5:176842474-176952919	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
14	nsv883176	chr5:176843297-176924175	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
15	nsv1030965	chr5:176851182-176937654	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
16	nsv1026103	chr5:176851182-176942552	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
17	nsv1022832	chr5:176861503-176937654	Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
18	nsv1018088	chr5:176861503-176942552	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
19	nsv1028123	chr5:176861503-176949149	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
20	nsv537965	chr5:176861503-176949149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
21	nsv883177	chr5:176868358-177003616	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
22	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer 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	78 gene(s)	inside rSNPs	diseases
23	nsv883179	chr5:176912073-176926674	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
24	nsv883180	chr5:176912073-176937177	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
25	esv3399333	chr5:176917771-176920319	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176900600-176919200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:176901600-176923000	Weak transcription	Brain Angular Gyrus	brain
3	chr5:176902400-176920200	Weak transcription	Fetal Brain Male	brain
4	chr5:176907000-176921000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:176907200-176920000	Weak transcription	Primary B cells from cord blood	blood
6	chr5:176907200-176921000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:176907200-176921000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:176907200-176921200	Weak transcription	Small Intestine	intestine
9	chr5:176907200-176921800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:176908200-176919400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:176908600-176919800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:176908600-176920800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:176908600-176921000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:176908600-176921000	Strong transcription	Fetal Intestine Small	intestine
15	chr5:176908800-176920200	Strong transcription	Fetal Lung	lung
16	chr5:176908800-176920200	Strong transcription	NHEK	skin
17	chr5:176909200-176919600	Strong transcription	Osteobl	bone
18	chr5:176909600-176919600	Strong transcription	Right Ventricle	heart
19	chr5:176910000-176920800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:176910200-176918800	Strong transcription	Aorta	Aorta
21	chr5:176910200-176919600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:176910200-176919600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:176910200-176919800	Strong transcription	Left Ventricle	heart
24	chr5:176910200-176920000	Strong transcription	NHDF-Ad	bronchial
25	chr5:176910200-176921200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:176910400-176918400	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr5:176910400-176920600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:176910800-176920000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:176911000-176923000	Weak transcription	Dnd41	blood
30	chr5:176911200-176919600	Strong transcription	Esophagus	oesophagus
31	chr5:176911200-176920400	Weak transcription	Fetal Thymus	thymus
32	chr5:176911400-176920400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:176912000-176918400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:176912000-176919800	Weak transcription	Right Atrium	heart
35	chr5:176912400-176919800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:176913000-176918400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:176913000-176920600	Strong transcription	Ovary	ovary
38	chr5:176913000-176922400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:176913800-176919600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:176914200-176918600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr5:176914200-176919200	Genic enhancers	Rectal Smooth Muscle	rectum
42	chr5:176914200-176920000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:176914400-176921400	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr5:176914600-176918400	Strong transcription	Brain Germinal Matrix	brain
45	chr5:176914600-176918600	Strong transcription	Lung	lung
46	chr5:176914600-176919800	Strong transcription	Fetal Brain Female	brain
47	chr5:176914800-176920800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:176914800-176921000	Weak transcription	GM12878-XiMat	blood
49	chr5:176914800-176922800	Weak transcription	Fetal Kidney	kidney
50	chr5:176914800-176923600	Weak transcription	Pancreas	Pancrea

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