Variant report

Variant	rs571419836
Chromosome Location	chr5:17379897-17379898
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	EP300	chr5:17379111-17380117	SK-N-SH_RA	brain:	n/a	n/a
2	GATA3	chr5:17379307-17380098	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr5:17379147-17380179	SK-N-SH	brain:	n/a	n/a
4	TCF7L2	chr5:17378797-17379947	HEK293	kidney:	n/a	n/a
5	PBX3	chr5:17379671-17380121	SK-N-SH	brain:	n/a	n/a
6	TEAD4	chr5:17379104-17380069	SK-N-SH	brain:	n/a	n/a
7	PRDM1	chr5:17378193-17380076	Hela-S3	cervix:	n/a	chr5:17379739-17379754
8	MAX	chr5:17379328-17379936	Hela-S3	cervix:	n/a	n/a
9	STAT1	chr5:17377840-17380245	Hela-S3	cervix:	n/a	chr5:17378567-17378581
10	EP300	chr5:17378875-17380340	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr5:17379800-17379950	HCPEpiC	choroid plexus:	n/a	n/a
12	JUN	chr5:17378035-17379993	Hela-S3	cervix:	n/a	chr5:17378834-17378842 chr5:17378835-17378846 chr5:17378832-17378844
13	PBX3	chr5:17379144-17380183	SK-N-SH	brain:	n/a	n/a
14	GATA2	chr5:17379234-17380014	SH-SY5Y	brain:	n/a	n/a
15	NFIC	chr5:17379108-17380078	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr5:17379033-17380256	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr5:17379672-17380071	SK-N-SH	brain:	n/a	n/a
18	EP300	chr5:17379656-17380111	SK-N-SH_RA	brain:	n/a	n/a
19	TCF12	chr5:17379077-17380281	SK-N-SH	brain:	n/a	n/a
20	BRCA1	chr5:17377970-17379954	Hela-S3	cervix:	n/a	n/a
21	KAP1	chr5:17378179-17380106	HEK293	kidney:	n/a	n/a
22	EP300	chr5:17379202-17380158	SK-N-SH	brain:	n/a	n/a
23	TEAD4	chr5:17379289-17380027	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr5:17379200-17380136	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr5:17379731-17379907	SK-N-SH	brain:	n/a	n/a
26	ZBTB33	chr5:17379664-17380044	SK-N-SH	brain:	n/a	n/a
27	TFAP2A	chr5:17379131-17379926	Hela-S3	cervix:	n/a	chr5:17379461-17379476 chr5:17379523-17379538
28	KAP1	chr5:17378042-17380078	U2OS	brain:	n/a	n/a
29	MYC	chr5:17379304-17379954	Hela-S3	cervix:	n/a	n/a
30	RAD21	chr5:17379758-17379977	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:17215908..17217514-chr5:17379687..17381481,2	MCF-7	breast:
2	chr5:17379053..17381282-chr5:17384689..17387126,2	MCF-7	breast:
3	chr5:17374822..17377145-chr5:17377368..17380212,2	K562	blood:
4	chr5:17374463..17376322-chr5:17377368..17380030,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO10-3	chr5:17379016-17380619	XLOC_004746
2	lnc-MYO10-3	chr5:17379015-17380619	ENSG00000250822

Variant related genes	Relation type
ENSG00000249199	TF binding region
ENSG00000249199	Chromatin interaction
ENSG00000215196	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv830219	chr5:17325802-17518914	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv1793466	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	esv1801170	chr5:17364700-17721569	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	esv1820519	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	esv1824831	chr5:17364700-17721569	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	esv1827359	chr5:17364700-17721569	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
10	esv1828062	chr5:17364700-17721569	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv427713	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv428464	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	esv2757986	chr5:17364700-17936404	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	esv2759328	chr5:17364700-17936404	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
15	nsv1017469	chr5:17373383-17416643	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
16	nsv980966	chr5:17379819-17496300	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17375600-17380800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:17375800-17380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:17375800-17380400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:17375800-17380400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:17375800-17380400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:17375800-17380800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:17375800-17387000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:17377800-17380000	Enhancers	NHLF	lung
9	chr5:17377800-17382200	Enhancers	Placenta	Placenta
10	chr5:17378000-17380000	Enhancers	Fetal Lung	lung
11	chr5:17378000-17381200	Enhancers	Osteobl	bone
12	chr5:17378200-17380200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:17378200-17380800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:17378200-17381400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:17378200-17382400	Enhancers	NH-A	brain
16	chr5:17379000-17381200	Enhancers	Ovary	ovary
17	chr5:17379000-17382600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:17379200-17380000	Enhancers	HSMMtube	muscle
19	chr5:17379200-17380400	Enhancers	HMEC	breast
20	chr5:17379200-17382000	Enhancers	HSMM	muscle
21	chr5:17379200-17383000	Enhancers	A549	lung
22	chr5:17379400-17380000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:17379400-17380000	Enhancers	NHEK	skin
24	chr5:17379400-17380400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:17379400-17380400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:17379400-17382800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:17379600-17380000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:17379600-17382200	Enhancers	Hela-S3	cervix
29	chr5:17379800-17380400	Active TSS	Colon Smooth Muscle	Colon
30	chr5:17379800-17381000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:17379800-17382200	Enhancers	Cortex derived primary cultured neurospheres	brain

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