Variant report

Variant	rs150662013
Chromosome Location	chr5:61601636-61601637
allele	C/T
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	CTCF	chr5:61601620-61601770	GM06990	blood:	n/a	n/a
2	ATF1	chr5:61601469-61601973	K562	blood:	n/a	n/a
3	POLR2A	chr5:61601442-61602503	GM12878	blood:	n/a	n/a
4	YY1	chr5:61601505-61602082	H1-hESC	embryonic stem cell:	n/a	chr5:61601871-61601880 chr5:61601866-61601880 chr5:61601899-61601913
5	POLR2A	chr5:61601455-61603253	GM12892	blood:	n/a	n/a
6	USF1	chr5:61601469-61601920	H1-hESC	embryonic stem cell:	n/a	chr5:61601695-61601706 chr5:61601867-61601883 chr5:61601877-61601893
7	NR2F2	chr5:61601096-61602031	K562	blood:	n/a	n/a
8	ZNF143	chr5:61601583-61602149	Hela-S3	cervix:	n/a	chr5:61602012-61602022
9	HCFC1	chr5:61600977-61603460	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr5:61601532-61602227	Hela-S3	cervix:	n/a	chr5:61601697-61601706 chr5:61601697-61601706 chr5:61601695-61601704
11	CTCF	chr5:61601601-61601806	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr5:61601509-61602638	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr5:61601633-61602479	HCT-116	colon:	n/a	n/a
14	CHD2	chr5:61601096-61603020	K562	blood:	n/a	n/a
15	RELA	chr5:61601134-61602057	GM19099	blood:	n/a	n/a
16	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
17	USF1	chr5:61601445-61601947	A549	lung:	n/a	chr5:61601695-61601706 chr5:61601867-61601883 chr5:61601877-61601893
18	E2F6	chr5:61601363-61602012	A549	lung:	n/a	chr5:61601985-61601994 chr5:61601770-61601781 chr5:61601969-61601978
19	TCF7L2	chr5:61601305-61602608	PANC-1	pancreas:	n/a	n/a
20	CTCF	chr5:61601540-61601690	AG09319	gingival:	n/a	n/a
21	TRIM28	chr5:61601349-61602066	K562	blood:	n/a	n/a
22	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
23	TCF7L2	chr5:61601443-61602105	MCF-7	breast:	n/a	n/a
24	SIN3AK20	chr5:61601593-61602198	HepG2	liver:	n/a	n/a
25	ZBTB7A	chr5:61601550-61602936	K562	blood:	n/a	n/a
26	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
27	CTCF	chr5:61601520-61601670	GM12869	blood:	n/a	n/a
28	POLR2A	chr5:61601427-61602517	K562	blood:	n/a	n/a
29	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
30	PAX5	chr5:61601407-61602151	GM12878	blood:	n/a	n/a
31	BRCA1	chr5:61601502-61601950	GM12878	blood:	n/a	n/a
32	TAF1	chr5:61601563-61602594	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:61601521-61602556	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr5:61601099-61603376	GM12878	blood:	n/a	n/a
35	TBP	chr5:61601603-61602160	HepG2	liver:	n/a	n/a
36	CTCF	chr5:61601500-61601650	AG04450	lung:	n/a	n/a
37	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
38	USF1	chr5:61601412-61601910	A549	lung:	n/a	chr5:61601695-61601706 chr5:61601867-61601883 chr5:61601877-61601893
39	ELF1	chr5:61601450-61601948	HepG2	liver:	n/a	chr5:61601735-61601744 chr5:61601736-61601745 chr5:61601732-61601745 chr5:61601867-61601879
40	CTCF	chr5:61601631-61602130	K562	blood:	n/a	chr5:61601906-61601919 chr5:61602009-61602022 chr5:61601903-61601916
41	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
42	TAF1	chr5:61601603-61602515	K562	blood:	n/a	n/a
43	ZMIZ1	chr5:61601189-61602263	K562	blood:	n/a	n/a
44	POLR2A	chr5:61601554-61602201	HUVEC	blood vessel:	n/a	n/a
45	RAD21	chr5:61601512-61602146	IMR90	lung:	n/a	chr5:61601848-61601862
46	SIN3AK20	chr5:61601423-61602671	MCF-7	breast:	n/a	n/a
47	CTCF	chr5:61601466-61602292	GM12878	blood:	n/a	chr5:61601906-61601919 chr5:61602009-61602022 chr5:61601903-61601916 chr5:61602143-61602156
48	RFX5	chr5:61601213-61602452	Hela-S3	cervix:	n/a	n/a
49	SETDB1	chr5:61601423-61602040	K562	blood:	n/a	chr5:61601969-61601978
50	SP1	chr5:61601517-61601939	H1-hESC	embryonic stem cell:	n/a	chr5:61601896-61601905 chr5:61601895-61601907 chr5:61601895-61601907 chr5:61601897-61601906

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:61601636-61601686	PANC-1	pancreas:	n/a
2	chr5:61601629-61601679	HPAEpiC	pulmonary alveolar:	n/a
3	chr5:61601629-61601679	MCF-7	breast:	n/a
4	chr5:61601636-61601686	AG09319	gingival:	n/a
5	chr5:61601636-61601686	Jurkat	blood:	n/a
6	chr5:61601636-61601686	MCF-7	breast:	n/a
7	chr5:61601629-61601679	HRE	kidney:	n/a
8	chr5:61601629-61601679	HNPCEpiC	eye:	n/a
9	chr5:61601636-61601686	HRPEpiC	eye:	n/a
10	chr5:61601636-61601686	HCM	heart:	n/a
11	chr5:61601636-61601686	GM12892	blood:	n/a
12	chr5:61601629-61601679	SKMC	muscle:	n/a
13	chr5:61601636-61601686	T-47D	breast:	n/a
14	chr5:61601629-61601679	A549	lung:	n/a
15	chr5:61601629-61601679	HAEpiC	amniotic membrane:	n/a
16	chr5:61601629-61601679	GM12891	blood:	n/a
17	chr5:61601629-61601679	NHBE	bronchial:	n/a
18	chr5:61601636-61601686	Caco-2	colon:	n/a
19	chr5:61601636-61601686	AG04450	lung:	fetal
20	chr5:61601636-61601686	HIPEpiC	eye:	n/a
21	chr5:61601636-61601686	ProgFib	skin:	n/a
22	chr5:61601636-61601686	HRE	kidney:	n/a
23	chr5:61601629-61601679	AG04449	skin:	fetal
24	chr5:61601636-61601686	GM12891	blood:	n/a
25	chr5:61601636-61601686	U87	brain:	n/a
26	chr5:61601629-61601679	Hela-S3	cervix:	n/a
27	chr5:61601629-61601679	AG04450	lung:	fetal
28	chr5:61601629-61601679	GM12878	blood:	n/a
29	chr5:61601636-61601686	HAEpiC	amniotic membrane:	n/a
30	chr5:61601629-61601679	NH-A	brain:	n/a
31	chr5:61601629-61601679	HMEC	breast:	n/a
32	chr5:61601629-61601679	HRPEpiC	eye:	n/a
33	chr5:61601629-61601679	IMR90	lung:	fetal
34	chr5:61601636-61601686	HRCEpiC	kidney:	n/a
35	chr5:61601629-61601679	Caco-2	colon:	n/a
36	chr5:61601629-61601679	AoSMC	blood vessel:	n/a
37	chr5:61601629-61601679	H1-hESC	embryonic stem cell:	embryo
38	chr5:61601629-61601679	BE2_C	brain:	n/a
39	chr5:61601629-61601679	CMK	blood:	n/a
40	chr5:61601636-61601686	GM19239	blood:	n/a
41	chr5:61601629-61601679	BJ	skin:	n/a
42	chr5:61601629-61601679	AG09319	gingival:	n/a
43	chr5:61601629-61601679	HIPEpiC	eye:	n/a
44	chr5:61601629-61601679	HEEpiC	esophagus:	n/a
45	chr5:61601629-61601679	RPTEC	kidney:	n/a
46	chr5:61601629-61601679	ProgFib	skin:	n/a
47	chr5:61601636-61601686	CMK	blood:	n/a
48	chr5:61601629-61601679	Jurkat	blood:	n/a
49	chr5:61601636-61601686	NB4	blood:	n/a
50	chr5:61601629-61601679	HUVEC	blood vessel:	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
KIF2A	CpG island
ENSG00000107864	Chromatin interaction
ENSG00000086200	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:126 , 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	chr5:61601000-61601800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:61601000-61601800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:61601000-61601800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:61601000-61601800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr5:61601000-61601800	Flanking Active TSS	K562	blood
7	chr5:61601200-61601800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:61601200-61601800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:61601200-61601800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:61601200-61601800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr5:61601200-61601800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:61601200-61601800	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr5:61601200-61601800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr5:61601200-61601800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr5:61601200-61601800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr5:61601200-61601800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:61601200-61601800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:61601200-61601800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr5:61601200-61601800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:61601200-61601800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:61601200-61601800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:61601200-61601800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:61601200-61601800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:61601200-61601800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr5:61601200-61601800	Flanking Active TSS	Liver	Liver
26	chr5:61601200-61601800	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr5:61601200-61601800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr5:61601200-61601800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr5:61601200-61601800	Flanking Active TSS	Fetal Brain Female	brain
30	chr5:61601200-61601800	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr5:61601200-61601800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr5:61601200-61601800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr5:61601200-61601800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr5:61601200-61601800	Flanking Active TSS	GM12878-XiMat	blood
35	chr5:61601200-61601800	Flanking Active TSS	Hela-S3	cervix
36	chr5:61601200-61601800	Flanking Active TSS	HMEC	breast
37	chr5:61601200-61601800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr5:61601200-61601800	Flanking Active TSS	NHEK	skin
39	chr5:61601200-61601800	Flanking Active TSS	Osteobl	bone
40	chr5:61601200-61603000	Active TSS	Fetal Brain Male	brain
41	chr5:61601200-61603000	Active TSS	Fetal Muscle Trunk	muscle
42	chr5:61601200-61603400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr5:61601200-61603400	Active TSS	Small Intestine	intestine
44	chr5:61601200-61603800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr5:61601200-61603800	Active TSS	Brain Hippocampus Middle	brain
46	chr5:61601200-61603800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:61601200-61603800	Active TSS	Fetal Kidney	kidney
48	chr5:61601200-61603800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:61601200-61604400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:61601400-61601800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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