Variant report

Variant	rs561474367
Chromosome Location	chr5:61601590-61601591
allele	-/GTAA
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	ATF1	chr5:61601469-61601973	K562	blood:	n/a	n/a
2	POLR2A	chr5:61601442-61602503	GM12878	blood:	n/a	n/a
3	YY1	chr5:61601505-61602082	H1-hESC	embryonic stem cell:	n/a	chr5:61601871-61601880 chr5:61601866-61601880 chr5:61601899-61601913
4	POLR2A	chr5:61601455-61603253	GM12892	blood:	n/a	n/a
5	USF1	chr5:61601469-61601920	H1-hESC	embryonic stem cell:	n/a	chr5:61601695-61601706 chr5:61601867-61601883 chr5:61601877-61601893
6	NR2F2	chr5:61601096-61602031	K562	blood:	n/a	n/a
7	ZNF143	chr5:61601583-61602149	Hela-S3	cervix:	n/a	chr5:61602012-61602022
8	HCFC1	chr5:61600977-61603460	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr5:61601532-61602227	Hela-S3	cervix:	n/a	chr5:61601697-61601706 chr5:61601697-61601706 chr5:61601695-61601704
10	SIN3AK20	chr5:61601509-61602638	PANC-1	pancreas:	n/a	n/a
11	CHD2	chr5:61601096-61603020	K562	blood:	n/a	n/a
12	RELA	chr5:61601134-61602057	GM19099	blood:	n/a	n/a
13	SP1	chr5:61601436-61602350	A549	lung:	n/a	chr5:61601896-61601905 chr5:61601895-61601907 chr5:61601895-61601907 chr5:61601983-61601995 chr5:61601984-61601993 chr5:61601984-61601998 chr5:61601985-61601994 chr5:61601897-61601906 chr5:61601983-61601995
14	USF1	chr5:61601445-61601947	A549	lung:	n/a	chr5:61601695-61601706 chr5:61601867-61601883 chr5:61601877-61601893
15	E2F6	chr5:61601363-61602012	A549	lung:	n/a	chr5:61601985-61601994 chr5:61601770-61601781 chr5:61601969-61601978
16	TCF7L2	chr5:61601305-61602608	PANC-1	pancreas:	n/a	n/a
17	CTCF	chr5:61601540-61601690	AG09319	gingival:	n/a	n/a
18	TRIM28	chr5:61601349-61602066	K562	blood:	n/a	n/a
19	MAX	chr5:61601096-61601966	H1-hESC	embryonic stem cell:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
20	TCF7L2	chr5:61601443-61602105	MCF-7	breast:	n/a	n/a
21	ZBTB7A	chr5:61601550-61602936	K562	blood:	n/a	n/a
22	STAT5A	chr5:61601453-61601948	K562	blood:	n/a	chr5:61601733-61601742 chr5:61601734-61601742 chr5:61601728-61601748 chr5:61601734-61601743 chr5:61601728-61601748 chr5:61601731-61601745 chr5:61601595-61601602
23	CTCF	chr5:61601520-61601670	GM12869	blood:	n/a	n/a
24	POLR2A	chr5:61601427-61602517	K562	blood:	n/a	n/a
25	YY1	chr5:61601422-61602576	GM12878	blood:	n/a	chr5:61601871-61601880 chr5:61601866-61601880 chr5:61602479-61602493 chr5:61601899-61601913 chr5:61602485-61602494 chr5:61602480-61602494 chr5:61602479-61602488 chr5:61602428-61602442 chr5:61602483-61602494
26	PAX5	chr5:61601407-61602151	GM12878	blood:	n/a	n/a
27	BRCA1	chr5:61601502-61601950	GM12878	blood:	n/a	n/a
28	TAF1	chr5:61601563-61602594	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:61601521-61602556	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr5:61601099-61603376	GM12878	blood:	n/a	n/a
31	CTCF	chr5:61601500-61601650	AG04450	lung:	n/a	n/a
32	MYC	chr5:61601498-61602405	MCF-7	breast:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
33	USF1	chr5:61601412-61601910	A549	lung:	n/a	chr5:61601695-61601706 chr5:61601867-61601883 chr5:61601877-61601893
34	ELF1	chr5:61601450-61601948	HepG2	liver:	n/a	chr5:61601735-61601744 chr5:61601736-61601745 chr5:61601732-61601745 chr5:61601867-61601879
35	MYC	chr5:61601515-61602267	MCF10A-Er-Src	breast:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
36	ZMIZ1	chr5:61601189-61602263	K562	blood:	n/a	n/a
37	POLR2A	chr5:61601554-61602201	HUVEC	blood vessel:	n/a	n/a
38	RAD21	chr5:61601512-61602146	IMR90	lung:	n/a	chr5:61601848-61601862
39	SIN3AK20	chr5:61601423-61602671	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:61601466-61602292	GM12878	blood:	n/a	chr5:61601906-61601919 chr5:61602009-61602022 chr5:61601903-61601916 chr5:61602143-61602156
41	RFX5	chr5:61601213-61602452	Hela-S3	cervix:	n/a	n/a
42	SETDB1	chr5:61601423-61602040	K562	blood:	n/a	chr5:61601969-61601978
43	SP1	chr5:61601517-61601939	H1-hESC	embryonic stem cell:	n/a	chr5:61601896-61601905 chr5:61601895-61601907 chr5:61601895-61601907 chr5:61601897-61601906
44	ELF1	chr5:61601442-61602603	K562	blood:	n/a	chr5:61602117-61602129 chr5:61601735-61601744 chr5:61602480-61602492 chr5:61601736-61601745 chr5:61601732-61601745 chr5:61601953-61601962 chr5:61601867-61601879
45	USF1	chr5:61601455-61601960	K562	blood:	n/a	chr5:61601695-61601706 chr5:61601867-61601883 chr5:61601877-61601893
46	POLR2A	chr5:61601498-61603213	GM18526	blood:	n/a	n/a
47	CHD2	chr5:61601480-61603312	GM12878	blood:	n/a	n/a
48	CREB1	chr5:61601389-61603298	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:61601216-61603207	K562	blood:	n/a	n/a
50	POLR2A	chr5:61601527-61603184	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:94050798..94051586-chr5:61601516..61602145,2	Hela-S3	cervix:
2	chr5:61593661..61595529-chr5:61600373..61601956,2	K562	blood:
3	chr5:61601533..61603969-chr5:61707379..61709702,2	K562	blood:

Variant related genes	Relation type
KIF2A	TF binding region
ENSG00000086200	Chromatin interaction
ENSG00000107864	Chromatin interaction
ENSG00000198060	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
10	esv3355830	chr5:61601020-61603768	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 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	chr5:61600800-61601800	Flanking Active TSS	Dnd41	blood
2	chr5:61601000-61601600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr5:61601000-61601600	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr5:61601000-61601600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr5:61601000-61601600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr5:61601000-61601800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:61601000-61601800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:61601000-61601800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:61601000-61601800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr5:61601000-61601800	Flanking Active TSS	K562	blood
11	chr5:61601200-61601600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:61601200-61601600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr5:61601200-61601600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:61601200-61601600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr5:61601200-61601600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:61601200-61601600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:61601200-61601600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:61601200-61601600	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr5:61601200-61601600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr5:61601200-61601600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:61601200-61601600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:61601200-61601600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:61601200-61601600	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr5:61601200-61601600	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr5:61601200-61601600	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr5:61601200-61601600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr5:61601200-61601600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:61601200-61601600	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr5:61601200-61601600	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr5:61601200-61601600	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr5:61601200-61601600	Flanking Active TSS	Fetal Lung	lung
32	chr5:61601200-61601600	Flanking Active TSS	Fetal Stomach	stomach
33	chr5:61601200-61601600	Flanking Active TSS	Psoas Muscle	Psoas
34	chr5:61601200-61601600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:61601200-61601600	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr5:61601200-61601600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr5:61601200-61601600	Enhancers	Spleen	Spleen
38	chr5:61601200-61601600	Flanking Active TSS	A549	lung
39	chr5:61601200-61601600	Flanking Active TSS	NHDF-Ad	bronchial
40	chr5:61601200-61601800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:61601200-61601800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:61601200-61601800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:61601200-61601800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr5:61601200-61601800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr5:61601200-61601800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr5:61601200-61601800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr5:61601200-61601800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr5:61601200-61601800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr5:61601200-61601800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:61601200-61601800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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