Variant report

Variant	rs374889152
Chromosome Location	chr5:61602263-61602264
allele	A/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	POLR2A	chr5:61601442-61602503	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:61601455-61603253	GM12892	blood:	n/a	n/a
3	HCFC1	chr5:61600977-61603460	Hela-S3	cervix:	n/a	n/a
4	SIN3AK20	chr5:61601509-61602638	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr5:61601633-61602479	HCT-116	colon:	n/a	n/a
6	CHD2	chr5:61601096-61603020	K562	blood:	n/a	n/a
7	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
8	TCF7L2	chr5:61601305-61602608	PANC-1	pancreas:	n/a	n/a
9	ZBTB7A	chr5:61601550-61602936	K562	blood:	n/a	n/a
10	POLR2A	chr5:61601427-61602517	K562	blood:	n/a	n/a
11	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
12	TAF1	chr5:61601563-61602594	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:61601521-61602556	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr5:61601099-61603376	GM12878	blood:	n/a	n/a
15	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
16	SIN3AK20	chr5:61602203-61602365	HepG2	liver:	n/a	n/a
17	MAZ	chr5:61601731-61602753	HepG2	liver:	n/a	chr5:61602701-61602711 chr5:61601913-61601923
18	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
19	TAF1	chr5:61601603-61602515	K562	blood:	n/a	n/a
20	ZMIZ1	chr5:61601189-61602263	K562	blood:	n/a	n/a
21	SIN3AK20	chr5:61601423-61602671	MCF-7	breast:	n/a	n/a
22	CTCF	chr5:61601466-61602292	GM12878	blood:	n/a	chr5:61601906-61601919 chr5:61602009-61602022 chr5:61601903-61601916 chr5:61602143-61602156
23	RFX5	chr5:61601213-61602452	Hela-S3	cervix:	n/a	n/a
24	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
25	POLR2A	chr5:61601498-61603213	GM18526	blood:	n/a	n/a
26	CHD2	chr5:61601480-61603312	GM12878	blood:	n/a	n/a
27	CREB1	chr5:61601389-61603298	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:61601216-61603207	K562	blood:	n/a	n/a
29	POLR2A	chr5:61601527-61603184	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:61601340-61603306	SK-N-MC	brain:	n/a	n/a
31	MAX	chr5:61601151-61603321	K562	blood:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61602701-61602711 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
32	TAF1	chr5:61602188-61602521	SK-N-SH	brain:	n/a	n/a
33	MYC	chr5:61601030-61603307	NB4	blood:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61602701-61602711 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
34	POLR2A	chr5:61601939-61602456	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:61601043-61603386	GM12891	blood:	n/a	n/a
36	POLR2A	chr5:61601211-61603351	GM12892	blood:	n/a	n/a
37	MYC	chr5:61601134-61602537	K562	blood:	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
38	POLR2A	chr5:61602225-61602432	GM12891	blood:	n/a	n/a
39	MAX	chr5:61601393-61602478	SK-N-SH	brain:	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
40	POLR2A	chr5:61601491-61602428	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr5:61601442-61603329	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr5:61602209-61602423	SK-N-SH	brain:	n/a	n/a
43	MXI1	chr5:61601316-61602465	K562	blood:	n/a	chr5:61601697-61601706 chr5:61601697-61601706 chr5:61601695-61601704
44	CCNT2	chr5:61601589-61602764	K562	blood:	n/a	n/a
45	TAF1	chr5:61601525-61602850	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr5:61601124-61603360	GM19099	blood:	n/a	n/a
47	ETS1	chr5:61602104-61602605	A549	lung:	n/a	n/a
48	POLR2A	chr5:61601070-61603073	K562	blood:	n/a	n/a
49	POLR2A	chr5:61601513-61602499	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr5:61601016-61603236	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:61601759..61603415-chr5:61698105..61699743,2	K562	blood:
2	chr5:61601799..61604714-chr5:61698844..61701505,2	MCF-7	breast:
3	chr5:61601958..61603491-chr5:61698096..61700949,2	MCF-7	breast:
4	chr5:61601533..61603969-chr5:61707379..61709702,2	K562	blood:

Variant related genes	Relation type
KIF2A	TF binding region
ENSG00000086200	Chromatin interaction
ENSG00000086189	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61601200-61603000	Active TSS	Fetal Brain Male	brain
2	chr5:61601200-61603000	Active TSS	Fetal Muscle Trunk	muscle
3	chr5:61601200-61603400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr5:61601200-61603400	Active TSS	Small Intestine	intestine
5	chr5:61601200-61603800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:61601200-61603800	Active TSS	Brain Hippocampus Middle	brain
7	chr5:61601200-61603800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr5:61601200-61603800	Active TSS	Fetal Kidney	kidney
9	chr5:61601200-61603800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:61601200-61604400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:61601400-61603000	Active TSS	Right Ventricle	heart
12	chr5:61601400-61603200	Active TSS	Gastric	stomach
13	chr5:61601400-61603200	Active TSS	Lung	lung
14	chr5:61601400-61603200	Active TSS	Pancreas	Pancrea
15	chr5:61601400-61603200	Active TSS	Thymus	Thymus
16	chr5:61601400-61603400	Active TSS	Aorta	Aorta
17	chr5:61601400-61603400	Active TSS	Left Ventricle	heart
18	chr5:61601400-61603600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:61601400-61603600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:61601400-61603600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:61601400-61603600	Active TSS	Ovary	ovary
22	chr5:61601400-61603800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:61601400-61604000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr5:61601400-61604000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:61601600-61602400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:61601600-61602400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:61601600-61602800	Active TSS	Primary hematopoietic stem cells	blood
28	chr5:61601600-61603000	Active TSS	Primary T cells from cord blood	blood
29	chr5:61601600-61603000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr5:61601600-61603200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr5:61601600-61603200	Active TSS	Spleen	Spleen
32	chr5:61601600-61603400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr5:61601600-61603400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:61601600-61603400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:61601600-61603400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr5:61601600-61603400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr5:61601600-61603400	Active TSS	Brain Cingulate Gyrus	brain
38	chr5:61601600-61603400	Active TSS	Fetal Intestine Small	intestine
39	chr5:61601600-61603400	Active TSS	Fetal Stomach	stomach
40	chr5:61601600-61603400	Active TSS	Psoas Muscle	Psoas
41	chr5:61601600-61603400	Active TSS	Stomach Smooth Muscle	stomach
42	chr5:61601600-61603400	Active TSS	A549	lung
43	chr5:61601600-61603600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr5:61601600-61603600	Active TSS	Brain Angular Gyrus	brain
45	chr5:61601600-61603600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr5:61601600-61603600	Active TSS	Fetal Lung	lung
47	chr5:61601600-61603800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:61601600-61603800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:61601600-61603800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr5:61601600-61603800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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