Variant report

Variant	rs564848591
Chromosome Location	chr6:13487686-13487687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:320)
CpG islands
(count:122)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:13487245-13487799	HEK293	kidney:	n/a	n/a
2	YY1	chr6:13487579-13488026	GM12891	blood:	n/a	chr6:13487772-13487794 chr6:13487730-13487741 chr6:13487730-13487744 chr6:13487772-13487782 chr6:13487793-13487807
3	MXI1	chr6:13484535-13488686	SK-N-SH	brain:	n/a	n/a
4	YY1	chr6:13486819-13488072	K562	blood:	n/a	chr6:13487772-13487794 chr6:13487730-13487741 chr6:13487730-13487744 chr6:13487772-13487782 chr6:13487793-13487807
5	POLR2A	chr6:13487521-13487922	HCT-116	colon:	n/a	n/a
6	CTCF	chr6:13487560-13487710	NHDF-neo	bronchial:	n/a	chr6:13487667-13487680
7	CTCF	chr6:13487580-13487730	HAc	cerebellar:	n/a	chr6:13487667-13487680
8	POLR2A	chr6:13486907-13488187	GM18526	blood:	n/a	n/a
9	POLR2A	chr6:13487684-13487888	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:13487620-13487770	A549	lung:	n/a	chr6:13487667-13487680
11	TBP	chr6:13487461-13487936	HepG2	liver:	n/a	n/a
12	CTCF	chr6:13487435-13487871	K562	blood:	n/a	chr6:13487667-13487680
13	MAX	chr6:13486768-13488070	A549	lung:	n/a	chr6:13487342-13487351
14	MXI1	chr6:13486961-13487914	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:13485907-13488270	GM18951	blood:	n/a	n/a
16	POLR2A	chr6:13487574-13487975	K562	blood:	n/a	n/a
17	EGR1	chr6:13487522-13488029	ECC-1	luminal epithelium:	n/a	chr6:13487892-13487906 chr6:13487844-13487857
18	CTCF	chr6:13487640-13487790	AG04449	skin:	n/a	chr6:13487667-13487680
19	E2F4	chr6:13486864-13488140	K562	blood:	n/a	chr6:13487750-13487760
20	POLR2A	chr6:13485921-13488226	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:13486837-13488588	HUVEC	blood vessel:	n/a	n/a
22	ELF1	chr6:13487473-13487944	HepG2	liver:	n/a	chr6:13487729-13487738
23	NFYA	chr6:13487484-13487977	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:13487559-13487884	GM12891	blood:	n/a	n/a
25	JUND	chr6:13487568-13487898	K562	blood:	n/a	n/a
26	POLR2A	chr6:13487502-13487907	GM12892	blood:	n/a	n/a
27	RAD21	chr6:13487473-13487948	HepG2	liver:	n/a	chr6:13487742-13487756
28	TAF1	chr6:13486897-13488362	ECC-1	luminal epithelium:	n/a	n/a
29	IRF1	chr6:13487454-13487904	K562	blood:	n/a	n/a
30	MYC	chr6:13486067-13488139	NB4	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
31	POLR2A	chr6:13487535-13487970	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:13487619-13487925	GM12892	blood:	n/a	n/a
33	CTCF	chr6:13487560-13487710	Caco-2	colon:	n/a	chr6:13487667-13487680
34	POLR2A	chr6:13487539-13488012	GM12891	blood:	n/a	n/a
35	POLR2A	chr6:13487544-13487909	K562	blood:	n/a	n/a
36	MAX	chr6:13486184-13488812	GM12878	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
37	CTCF	chr6:13487580-13487730	HCPEpiC	choroid plexus:	n/a	chr6:13487667-13487680
38	POLR2A	chr6:13486803-13487949	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:13487358-13488298	HUVEC	blood vessel:	n/a	n/a
40	MYC	chr6:13486170-13488139	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
41	CTCF	chr6:13487560-13487710	HUVEC	blood vessel:	n/a	chr6:13487667-13487680
42	SIN3AK20	chr6:13487332-13487934	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr6:13486331-13488405	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr6:13486909-13488031	GM12878	blood:	n/a	chr6:13487772-13487794 chr6:13487730-13487741 chr6:13487730-13487744 chr6:13487772-13487782 chr6:13487793-13487807
45	POLR2A	chr6:13487558-13488296	GM12891	blood:	n/a	n/a
46	TBP	chr6:13487594-13487874	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr6:13487456-13487780	K562	blood:	n/a	chr6:13487667-13487680
48	ZNF384	chr6:13487606-13487783	K562	blood:	n/a	n/a
49	CTCF	chr6:13487620-13487770	Hela-S3	cervix:	n/a	chr6:13487667-13487680
50	POLR2A	chr6:13487586-13487915	SK-N-SH	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13487662-13487712	ECC-1	luminal epithelium:	n/a
2	chr6:13487662-13487712	IMR90	lung:	fetal
3	chr6:13487668-13487718	Caco-2	colon:	n/a
4	chr6:13487662-13487712	Caco-2	colon:	n/a
5	chr6:13487668-13487718	PrEC	prostate:	n/a
6	chr6:13487662-13487712	HAEpiC	amniotic membrane:	n/a
7	chr6:13487662-13487712	SAEC	small airway:	n/a
8	chr6:13487668-13487718	HRCEpiC	kidney:	n/a
9	chr6:13487662-13487712	HRPEpiC	eye:	n/a
10	chr6:13487662-13487712	AG09309	skin:	n/a
11	chr6:13487662-13487712	ProgFib	skin:	n/a
12	chr6:13487662-13487712	AG09319	gingival:	n/a
13	chr6:13487668-13487718	AG04449	skin:	fetal
14	chr6:13487668-13487718	AG04450	lung:	fetal
15	chr6:13487662-13487712	LNCaP	prostate:	n/a
16	chr6:13487668-13487718	SK-N-MC	brain:	n/a
17	chr6:13487668-13487718	GM19239	blood:	n/a
18	chr6:13487668-13487718	IMR90	lung:	fetal
19	chr6:13487668-13487718	CMK	blood:	n/a
20	chr6:13487668-13487718	ECC-1	luminal epithelium:	n/a
21	chr6:13487668-13487718	NB4	blood:	n/a
22	chr6:13487662-13487712	HIPEpiC	eye:	n/a
23	chr6:13487662-13487712	Hepatocyte	liver:	n/a
24	chr6:13487668-13487718	NT2-D1	testis:	n/a
25	chr6:13487662-13487712	NB4	blood:	n/a
26	chr6:13487662-13487712	A549	lung:	n/a
27	chr6:13487668-13487718	AG09309	skin:	n/a
28	chr6:13487668-13487718	HUVEC	blood vessel:	n/a
29	chr6:13487668-13487718	HMEC	breast:	n/a
30	chr6:13487668-13487718	HCPEpiC	choroid plexus:	n/a
31	chr6:13487668-13487718	Hela-S3	cervix:	n/a
32	chr6:13487668-13487718	U87	brain:	n/a
33	chr6:13487668-13487718	BJ	skin:	n/a
34	chr6:13487668-13487718	A549	lung:	n/a
35	chr6:13487662-13487712	NHDF-neo	bronchial:	n/a
36	chr6:13487668-13487718	HAEpiC	amniotic membrane:	n/a
37	chr6:13487662-13487712	U87	brain:	n/a
38	chr6:13487668-13487718	SAEC	small airway:	n/a
39	chr6:13487668-13487718	LNCaP	prostate:	n/a
40	chr6:13487668-13487718	HCT-116	colon:	n/a
41	chr6:13487662-13487712	NT2-D1	testis:	n/a
42	chr6:13487668-13487718	HL-60	blood:	n/a
43	chr6:13487662-13487712	SK-N-SH_RA	brain:	n/a
44	chr6:13487668-13487718	NHDF-neo	bronchial:	n/a
45	chr6:13487668-13487718	ovcar-3	ovarian:	n/a
46	chr6:13487662-13487712	Jurkat	blood:	n/a
47	chr6:13487668-13487718	K562	blood:	n/a
48	chr6:13487662-13487712	SK-N-MC	brain:	n/a
49	chr6:13487668-13487718	BE2_C	brain:	n/a
50	chr6:13487668-13487718	HEEpiC	esophagus:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13328740..13330326-chr6:13487032..13488615,2	K562	blood:
2	chr6:13273285..13276286-chr6:13486162..13489029,3	K562	blood:
3	chr6:13408139..13410381-chr6:13486541..13489029,3	MCF-7	breast:
4	chr6:13273285..13276286-chr6:13486162..13489029,4	K562	blood:
5	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
6	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
7	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:
8	chr6:13326316..13328538-chr6:13485562..13488530,2	MCF-7	breast:
9	chr6:13471062..13472931-chr6:13486374..13489089,2	MCF-7	breast:
10	chr6:13486147..13488786-chr6:13613803..13616517,3	K562	blood:
11	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
12	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
13	chr6:13486545..13489203-chr6:13612282..13616748,6	MCF-7	breast:
14	chr6:13406818..13408886-chr6:13483840..13488220,5	MCF-7	breast:
15	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:
16	chr6:13486736..13489619-chr6:13614070..13616875,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187461	TF binding region
GFOD1	TF binding region
ENSG00000187461	CpG island
GFOD1	CpG island
ENSG00000225921	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3421701	chr6:13485573-13489871	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3363743	chr6:13486598-13489146	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	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	chr6:13483200-13488800	Active TSS	Right Atrium	heart
2	chr6:13484200-13488600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:13484600-13488400	Active TSS	GM12878-XiMat	blood
4	chr6:13484800-13488400	Active TSS	Right Ventricle	heart
5	chr6:13485000-13488800	Active TSS	Brain Angular Gyrus	brain
6	chr6:13485000-13489600	Active TSS	Rectal Smooth Muscle	rectum
7	chr6:13485200-13488200	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:13485200-13488200	Active TSS	NHLF	lung
9	chr6:13485200-13488600	Active TSS	Left Ventricle	heart
10	chr6:13485200-13488600	Active TSS	A549	lung
11	chr6:13485200-13488800	Active TSS	Brain Anterior Caudate	brain
12	chr6:13485200-13488800	Active TSS	Psoas Muscle	Psoas
13	chr6:13485400-13488600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:13485400-13488600	Active TSS	NHDF-Ad	bronchial
15	chr6:13485600-13488200	Active TSS	Placenta Amnion	Placenta Amnion
16	chr6:13485600-13488200	Active TSS	HSMMtube	muscle
17	chr6:13485600-13488600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr6:13485600-13488600	Active TSS	Esophagus	oesophagus
19	chr6:13485600-13488600	Active TSS	Lung	lung
20	chr6:13485600-13488800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr6:13485600-13488800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:13485600-13489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:13485800-13488600	Active TSS	Ovary	ovary
24	chr6:13486000-13488200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:13486000-13488200	Active TSS	Spleen	Spleen
26	chr6:13486000-13488200	Active TSS	Hela-S3	cervix
27	chr6:13486000-13488200	Active TSS	HMEC	breast
28	chr6:13486000-13488200	Active TSS	K562	blood
29	chr6:13486000-13488400	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr6:13486000-13488600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:13486000-13488600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:13486000-13488800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr6:13486000-13488800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:13486000-13488800	Active TSS	Aorta	Aorta
35	chr6:13486000-13488800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr6:13486000-13489000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:13486000-13489000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr6:13486000-13489000	Active TSS	Fetal Brain Female	brain
39	chr6:13486000-13489000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:13486000-13489200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:13486200-13488000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr6:13486200-13488000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr6:13486200-13488000	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:13486200-13488200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr6:13486200-13488200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:13486200-13488200	Active TSS	Small Intestine	intestine
47	chr6:13486200-13488400	Active TSS	HSMM	muscle
48	chr6:13486200-13488600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:13486200-13488800	Active TSS	Brain Cingulate Gyrus	brain
50	chr6:13486200-13488800	Active TSS	Brain Hippocampus Middle	brain

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