Variant report

Variant	rs368371767
Chromosome Location	chr5:179061888-179061889
allele	-/C
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	FOSL2	chr5:179061003-179061897	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:179060896-179062279	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:179060974-179062087	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:179060992-179062179	GM12892	blood:	n/a	n/a
5	MYC	chr5:179061728-179061942	K562	blood:	n/a	n/a
6	POLR2A	chr5:179060971-179062164	H1-hESC	embryonic stem cell:	n/a	n/a
7	POU2F2	chr5:179061020-179062163	GM12891	blood:	n/a	n/a
8	POLR2A	chr5:179060998-179062153	HepG2	liver:	n/a	n/a
9	HEY1	chr5:179061198-179062005	K562	blood:	n/a	chr5:179061213-179061228 chr5:179061480-179061495
10	CTCF	chr5:179061369-179061929	GM12892	blood:	n/a	n/a
11	SPI1	chr5:179061551-179061969	GM12891	blood:	n/a	n/a
12	TEAD4	chr5:179061880-179062204	H1-hESC	embryonic stem cell:	n/a	chr5:179061975-179061984
13	PAX5	chr5:179061080-179061945	GM12878	blood:	n/a	chr5:179061801-179061811 chr5:179061809-179061818
14	IRF4	chr5:179061136-179062077	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:179061027-179062129	GM12878	blood:	n/a	n/a
16	CTCF	chr5:179061793-179061939	GM19238	blood:	n/a	n/a
17	CBX3	chr5:179061169-179062060	K562	blood:	n/a	n/a
18	TRIM28	chr5:179061174-179061990	K562	blood:	n/a	n/a
19	POLR2A	chr5:179061522-179062173	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:179061059-179061909	GM12878	blood:	n/a	n/a
21	NR2F2	chr5:179061001-179062129	K562	blood:	n/a	n/a
22	HEY1	chr5:179061148-179062048	K562	blood:	n/a	chr5:179061213-179061228 chr5:179061480-179061495
23	SPI1	chr5:179061350-179061978	GM12878	blood:	n/a	n/a
24	SPI1	chr5:179061568-179061985	K562	blood:	n/a	n/a
25	POLR2A	chr5:179061140-179062003	PFSK-1	brain:	n/a	n/a
26	SPI1	chr5:179061570-179061969	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:179061150-179062070	A549	lung:	n/a	n/a
28	NR2F2	chr5:179061224-179061972	K562	blood:	n/a	n/a
29	POLR2A	chr5:179060970-179062176	GM12892	blood:	n/a	n/a
30	SP1	chr5:179061318-179061984	K562	blood:	n/a	n/a
31	POLR2A	chr5:179060911-179062037	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:179061209-179061923	K562	blood:	n/a	n/a
33	SPI1	chr5:179061644-179061933	K562	blood:	n/a	n/a
34	TAF1	chr5:179060918-179062168	H1-hESC	embryonic stem cell:	n/a	n/a
35	SPI1	chr5:179061713-179061907	GM12878	blood:	n/a	n/a
36	POLR2A	chr5:179060971-179062138	K562	blood:	n/a	n/a
37	TAF1	chr5:179061290-179062122	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr5:179061784-179061951	GM12878	blood:	n/a	n/a
39	GABPA	chr5:179061664-179062143	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:179061229-179061953	HepG2	liver:	n/a	n/a
41	POLR2A	chr5:179060960-179062109	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr5:179061073-179062173	HepG2	liver:	n/a	n/a
43	GATA2	chr5:179061322-179061998	K562	blood:	n/a	chr5:179061334-179061342
44	TCF12	chr5:179061856-179062147	GM12878	blood:	n/a	n/a
45	MYC	chr5:179061018-179062152	MCF-7	breast:	n/a	n/a
46	SPI1	chr5:179061532-179062066	GM12891	blood:	n/a	n/a
47	POLR2A	chr5:179061122-179062112	A549	lung:	n/a	n/a
48	SP1	chr5:179061098-179061966	A549	lung:	n/a	n/a
49	POU2F2	chr5:179061052-179062207	GM12878	blood:	n/a	n/a
50	POLR2A	chr5:179061184-179062149	A549	lung:	n/a	n/a

Variant related genes	Relation type
HNRNPH1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	nsv1033352	chr5:179056475-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1022780	chr5:179061394-179086482	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv10785	chr5:179061617-179062568	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	nsv969027	chr5:179061852-179079829	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179052200-179085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179059400-179062000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:179060600-179062000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr5:179060600-179062000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:179060600-179062000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:179060600-179062000	Active TSS	HSMM	muscle
7	chr5:179060800-179062000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:179060800-179062000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:179060800-179062000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:179060800-179065200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:179061000-179064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:179061200-179062000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:179061200-179062000	Active TSS	Adipose Nuclei	Adipose
14	chr5:179061200-179062800	Weak transcription	Right Atrium	heart
15	chr5:179061200-179064800	Weak transcription	NHEK	skin
16	chr5:179061200-179065800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:179061800-179062000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:179061800-179062000	Enhancers	Fetal Thymus	thymus
19	chr5:179061800-179062000	Enhancers	Dnd41	blood
20	chr5:179061800-179062000	Enhancers	K562	blood

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