Variant report

Variant	rs565703102
Chromosome Location	chr5:179231829-179231830
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179231657-179231905	K562	blood:	n/a	n/a
2	POLR2A	chr5:179231795-179232467	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:179224667-179233676	HL-60	blood:	n/a	n/a
4	POLR2A	chr5:179230590-179233696	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:179230770-179234550	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:179231687-179231914	HUVEC	blood vessel:	n/a	n/a
7	HEY1	chr5:179231589-179232151	K562	blood:	n/a	n/a
8	MXI1	chr5:179231675-179234766	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr5:179228779-179234761	K562	blood:	n/a	n/a
10	POLR2A	chr5:179231788-179231850	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr5:179231727-179232864	HEK293-T-REx	kidney:	n/a	chr5:179231999-179232020
12	POLR2A	chr5:179230730-179231952	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:179231633-179232708	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:179229521-179234618	MCF-7	breast:	n/a	n/a
15	POLR2A	chr5:179230582-179232017	K562	blood:	n/a	n/a
16	POLR2A	chr5:179231806-179232446	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:179224688-179234670	K562	blood:	n/a	n/a
18	POLR2A	chr5:179231534-179232263	HepG2	liver:	n/a	n/a
19	POLR2A	chr5:179231819-179235745	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179158622..179161306-chr5:179229255..179232070,3	MCF-7	breast:
2	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
3	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
4	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
5	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
6	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
7	chr5:179189775..179190581-chr5:179231187..179232028,2	K562	blood:
8	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
9	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:

No data

Variant related genes	Relation type
SQSTM1	TF binding region
MGAT4B	TF binding region
ENSG00000161021	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000197226	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers 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 miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
10	nsv883278	chr5:179214818-179238794	Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
11	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
12	nsv870188	chr5:179218824-179235424	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
13	nsv883280	chr5:179220010-179238794	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking 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	154 gene(s)	inside rSNPs	diseases
14	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
15	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
16	nsv883285	chr5:179223023-179238794	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	153 gene(s)	inside rSNPs	diseases
17	nsv600668	chr5:179227865-179242581	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv3403342	chr5:179231746-179236044	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr5:179224000-179232200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:179226200-179232200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179226800-179233200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:179227600-179232000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:179227800-179232000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:179227800-179232200	Enhancers	Fetal Heart	heart
7	chr5:179228000-179232400	Weak transcription	Aorta	Aorta
8	chr5:179228400-179232400	Genic enhancers	Placenta	Placenta
9	chr5:179228600-179232200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:179228800-179232000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:179228800-179232000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr5:179228800-179232000	Enhancers	Brain Hippocampus Middle	brain
13	chr5:179228800-179232000	Genic enhancers	Fetal Stomach	stomach
14	chr5:179228800-179232200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:179228800-179232200	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr5:179228800-179232400	Enhancers	Primary B cells from peripheral blood	blood
17	chr5:179228800-179232400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:179228800-179232400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:179228800-179232400	Enhancers	Fetal Thymus	thymus
20	chr5:179229000-179232000	Enhancers	Pancreas	Pancrea
21	chr5:179229200-179232000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:179229400-179232200	Enhancers	Left Ventricle	heart
23	chr5:179229400-179232400	Enhancers	Primary B cells from cord blood	blood
24	chr5:179229600-179232000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:179229600-179232000	Enhancers	NH-A	brain
26	chr5:179229600-179232200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:179230000-179232000	Enhancers	K562	blood
28	chr5:179230000-179232200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:179230000-179232200	Enhancers	Primary T cells from cord blood	blood
30	chr5:179230000-179232400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:179230000-179232800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:179230200-179232000	Enhancers	Gastric	stomach
33	chr5:179230200-179232000	Enhancers	Lung	lung
34	chr5:179230200-179232400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:179230200-179232400	Enhancers	Fetal Lung	lung
36	chr5:179230200-179232400	Enhancers	Thymus	Thymus
37	chr5:179230400-179232000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:179230400-179232400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:179230400-179232600	Flanking Active TSS	HepG2	liver
40	chr5:179230400-179232800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr5:179230600-179232200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:179230600-179232200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:179230600-179232200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:179230600-179232400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr5:179230600-179232400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:179230600-179232800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr5:179230800-179232000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:179230800-179232000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:179230800-179232000	Enhancers	Brain Angular Gyrus	brain
50	chr5:179230800-179232000	Genic enhancers	Fetal Muscle Leg	muscle

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