Variant report

Variant	rs538580422
Chromosome Location	chr6:13574619-13574620
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	ELF1	chr6:13574385-13575718	HepG2	liver:	n/a	chr6:13574704-13574716 chr6:13574976-13574989
2	POLR2A	chr6:13574361-13575736	HepG2	liver:	n/a	n/a
3	MYC	chr6:13574459-13575618	MCF-7	breast:	n/a	chr6:13575017-13575027
4	RAD21	chr6:13574379-13575051	HepG2	liver:	n/a	chr6:13574644-13574658 chr6:13574528-13574542
5	NRF1	chr6:13574506-13574872	Hela-S3	cervix:	n/a	chr6:13574694-13574703 chr6:13574692-13574703 chr6:13574692-13574701 chr6:13574691-13574702 chr6:13574810-13574819 chr6:13574689-13574703 chr6:13574692-13574706
6	MYC	chr6:13574450-13575750	K562	blood:	n/a	chr6:13575017-13575027
7	MAX	chr6:13574377-13575770	H1-hESC	embryonic stem cell:	n/a	chr6:13575017-13575027
8	EBF1	chr6:13574551-13575016	GM12878	blood:	n/a	n/a
9	CEBPB	chr6:13574454-13574691	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:13573481-13575699	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:13574091-13575803	PFSK-1	brain:	n/a	n/a
12	MXI1	chr6:13574427-13575670	Hela-S3	cervix:	n/a	n/a
13	MAX	chr6:13573740-13575770	HepG2	liver:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
14	RAD21	chr6:13574263-13574671	H1-hESC	embryonic stem cell:	n/a	chr6:13574644-13574658 chr6:13574528-13574542
15	REST	chr6:13574602-13575050	A549	lung:	n/a	chr6:13574681-13574694
16	POLR2A	chr6:13574409-13575644	HepG2	liver:	n/a	n/a
17	HEY1	chr6:13574258-13575725	HepG2	liver:	n/a	chr6:13574956-13574971 chr6:13574517-13574532 chr6:13574462-13574477 chr6:13574706-13574721
18	POLR2A	chr6:13573785-13575707	K562	blood:	n/a	n/a
19	HA-E2F1	chr6:13574488-13575753	MCF-7	breast:	n/a	chr6:13574810-13574819 chr6:13574693-13574702 chr6:13574489-13574498
20	YY1	chr6:13574388-13575718	GM12878	blood:	n/a	chr6:13574513-13574527 chr6:13574516-13574530 chr6:13575475-13575486 chr6:13574810-13574819
21	E2F6	chr6:13573834-13575779	H1-hESC	embryonic stem cell:	n/a	chr6:13574810-13574819 chr6:13574693-13574702 chr6:13573938-13573949 chr6:13574489-13574498
22	IRF1	chr6:13574120-13575745	K562	blood:	n/a	chr6:13574809-13574823
23	BCLAF1	chr6:13574391-13575741	K562	blood:	n/a	chr6:13575001-13575014 chr6:13574893-13574901 chr6:13574491-13574500
24	MYC	chr6:13574515-13574906	MCF-7	breast:	n/a	n/a
25	RCOR1	chr6:13573945-13575808	K562	blood:	n/a	n/a
26	MAZ	chr6:13574395-13575713	GM12878	blood:	n/a	chr6:13575017-13575027
27	SP4	chr6:13574393-13575119	H1-hESC	embryonic stem cell:	n/a	chr6:13574805-13574821 chr6:13574807-13574823
28	MAX	chr6:13574493-13575696	A549	lung:	n/a	chr6:13575017-13575027
29	HDAC2	chr6:13574354-13575783	MCF-7	breast:	n/a	chr6:13574694-13574703
30	ELK1	chr6:13574590-13574883	GM12878	blood:	n/a	n/a
31	TAF1	chr6:13574509-13574907	PFSK-1	brain:	n/a	n/a
32	CTCF	chr6:13574386-13574955	HepG2	liver:	n/a	chr6:13574453-13574466 chr6:13574526-13574539
33	ZBTB33	chr6:13574304-13574918	SK-N-SH	brain:	n/a	chr6:13574620-13574635
34	ETS1	chr6:13574395-13575547	K562	blood:	n/a	chr6:13574808-13574819 chr6:13574807-13574818
35	POLR2A	chr6:13574328-13575721	SK-N-SH	brain:	n/a	n/a
36	RAD21	chr6:13574300-13574654	K562	blood:	n/a	chr6:13574528-13574542
37	BCLAF1	chr6:13574403-13575746	GM12878	blood:	n/a	chr6:13575001-13575014 chr6:13574893-13574901 chr6:13574491-13574500
38	TAF1	chr6:13574400-13574727	GM12891	blood:	n/a	n/a
39	CTCF	chr6:13574328-13574624	GM12878	blood:	n/a	chr6:13574453-13574466 chr6:13574526-13574539
40	POLR2A	chr6:13574217-13575721	GM12892	blood:	n/a	n/a
41	E2F4	chr6:13574422-13575712	K562	blood:	n/a	chr6:13574810-13574819 chr6:13574693-13574702 chr6:13574489-13574498
42	FOS	chr6:13574594-13574836	MCF10A-Er-Src	breast:	n/a	chr6:13574809-13574818
43	TEAD4	chr6:13574398-13575764	K562	blood:	n/a	n/a
44	RAD21	chr6:13574268-13574787	SK-N-SH_RA	brain:	n/a	chr6:13574644-13574658 chr6:13574528-13574542
45	TBL1XR1	chr6:13574503-13575648	K562	blood:	n/a	n/a
46	CBX3	chr6:13573678-13575818	K562	blood:	n/a	n/a
47	TAL1	chr6:13574531-13575665	K562	blood:	n/a	n/a
48	POLR2A	chr6:13573659-13575749	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:13574155-13575695	NB4	blood:	n/a	n/a
50	BHLHE40	chr6:13573895-13575697	K562	blood:	n/a	chr6:13574455-13574471 chr6:13574644-13574660

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13574573-13574623	GM12891	blood:	n/a
2	chr6:13574573-13574623	NH-A	brain:	n/a
3	chr6:13574573-13574623	ECC-1	luminal epithelium:	n/a
4	chr6:13574573-13574623	IMR90	lung:	fetal
5	chr6:13574573-13574623	A549	lung:	n/a
6	chr6:13574573-13574623	RPTEC	kidney:	n/a
7	chr6:13574573-13574623	AG10803	skin:	n/a
8	chr6:13574573-13574623	GM06990	blood:	n/a
9	chr6:13574573-13574623	SK-N-SH_RA	brain:	n/a
10	chr6:13574573-13574623	ProgFib	skin:	n/a
11	chr6:13574573-13574623	NHBE	bronchial:	n/a
12	chr6:13574573-13574623	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:13574573-13574623	PANC-1	pancreas:	n/a
14	chr6:13574573-13574623	HMEC	breast:	n/a
15	chr6:13574573-13574623	MCF-7	breast:	n/a
16	chr6:13574573-13574623	HCPEpiC	choroid plexus:	n/a
17	chr6:13574573-13574623	HCT-116	colon:	n/a
18	chr6:13574573-13574623	HepG2	liver:	n/a
19	chr6:13574573-13574623	LNCaP	prostate:	n/a
20	chr6:13574573-13574623	AoSMC	blood vessel:	n/a
21	chr6:13574573-13574623	BJ	skin:	n/a
22	chr6:13574573-13574623	K562	blood:	n/a
23	chr6:13574573-13574623	HAEpiC	amniotic membrane:	n/a
24	chr6:13574573-13574623	HCF	heart:	n/a
25	chr6:13574573-13574623	H1-hESC	embryonic stem cell:	embryo
26	chr6:13574573-13574623	Caco-2	colon:	n/a
27	chr6:13574573-13574623	NB4	blood:	n/a
28	chr6:13574573-13574623	Hela-S3	cervix:	n/a
29	chr6:13574573-13574623	NT2-D1	testis:	n/a
30	chr6:13574573-13574623	HRPEpiC	eye:	n/a
31	chr6:13574573-13574623	HEK293	kidney:	embryo
32	chr6:13574573-13574623	SAEC	small airway:	n/a
33	chr6:13574573-13574623	Jurkat	blood:	n/a
34	chr6:13574573-13574623	MCF10A-Er-Src	breast:	n/a
35	chr6:13574573-13574623	U87	brain:	n/a
36	chr6:13574573-13574623	HRCEpiC	kidney:	n/a
37	chr6:13574573-13574623	T-47D	breast:	n/a
38	chr6:13574573-13574623	AG04450	lung:	fetal
39	chr6:13574573-13574623	HNPCEpiC	eye:	n/a
40	chr6:13574573-13574623	AG09319	gingival:	n/a
41	chr6:13574573-13574623	Hepatocyte	liver:	n/a
42	chr6:13574573-13574623	SK-N-MC	brain:	n/a
43	chr6:13574573-13574623	HEEpiC	esophagus:	n/a
44	chr6:13574573-13574623	GM12892	blood:	n/a
45	chr6:13574573-13574623	NHDF-neo	bronchial:	n/a
46	chr6:13574573-13574623	AG04449	skin:	fetal
47	chr6:13574573-13574623	AG09309	skin:	n/a
48	chr6:13574573-13574623	ovcar-3	ovarian:	n/a
49	chr6:13574573-13574623	HL-60	blood:	n/a
50	chr6:13574573-13574623	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
2	chr6:13572897..13576165-chr6:13619318..13622919,5	K562	blood:
3	chr6:13573088..13576408-chr6:13709684..13713261,5	MCF-7	breast:
4	chr6:13572710..13576955-chr6:13610549..13618685,22	MCF-7	breast:
5	chr6:13326831..13329117-chr6:13574155..13576632,2	K562	blood:
6	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:
7	chr1:28995095..28995809-chr6:13574451..13575261,2	HCT-116	colon:
8	chr6:13573221..13576787-chr6:13710917..13713733,6	K562	blood:
9	chr3:129032834..129033727-chr6:13574050..13574658,2	Hela-S3	cervix:
10	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
11	chr6:13397579..13400126-chr6:13573111..13574727,2	MCF-7	breast:
12	chr4:99850217..99850807-chr6:13574209..13575136,2	Hela-S3	cervix:
13	chr20:55966356..55966956-chr6:13574476..13575248,2	Hela-S3	cervix:
14	chr6:13573004..13578027-chr6:13613856..13617870,10	MCF-7	breast:
15	chr6:13572493..13576795-chr6:13677578..13681816,6	K562	blood:
16	chr6:13406137..13408577-chr6:13573927..13576170,2	MCF-7	breast:
17	chr6:13572923..13577086-chr6:13614342..13617597,6	K562	blood:
18	chr6:13573217..13575552-chr6:13711779..13713289,2	K562	blood:
19	chr6:13574510..13576795-chr6:13678124..13681559,3	K562	blood:
20	chr6:13572531..13574981-chr6:13813241..13815537,2	K562	blood:
21	chr6:13574305..13575294-chr8:103665947..103666716,2	Hela-S3	cervix:
22	chr19:1875967..1876544-chr6:13574476..13575318,2	Hela-S3	cervix:
23	chr6:13574530..13575381-chr6:33588931..33589769,3	Hela-S3	cervix:
24	chr6:13572776..13574707-chr6:13619444..13621662,2	MCF-7	breast:
25	chr6:13287477..13291631-chr6:13573758..13576939,3	K562	blood:
26	chr6:13572897..13576165-chr6:13620913..13622919,3	K562	blood:
27	chr17:57915194..57915741-chr6:13574211..13574814,2	Hela-S3	cervix:
28	chr4:25161465..25162427-chr6:13574449..13575337,2	Hela-S3	cervix:
29	chr6:13274197..13275936-chr6:13573987..13576342,2	K562	blood:
30	chr6:13574068..13574860-chr6:13615468..13616038,2	K562	blood:
31	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
32	chr6:13572865..13577994-chr6:13612366..13619020,17	K562	blood:
33	chr6:13280798..13285135-chr6:13573249..13575552,3	K562	blood:
34	chr6:13327393..13331113-chr6:13573725..13577168,7	MCF-7	breast:

Variant related genes	Relation type
SIRT5	TF binding region
SIRT5	CpG island
ENSG00000162419	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000272379	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000261526	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000109618	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000132819	Chromatin interaction
ENSG00000268059	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000038210	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000145990	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3367329	chr6:13573423-13576971	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 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	chr6:13573400-13575800	Active TSS	A549	lung
2	chr6:13573600-13575600	Active TSS	Right Ventricle	heart
3	chr6:13573800-13575000	Active TSS	Fetal Muscle Trunk	muscle
4	chr6:13573800-13575600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:13573800-13575600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:13573800-13575600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:13573800-13575600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:13573800-13575600	Active TSS	Brain Angular Gyrus	brain
9	chr6:13573800-13575600	Active TSS	Psoas Muscle	Psoas
10	chr6:13573800-13575800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr6:13573800-13575800	Active TSS	Brain Germinal Matrix	brain
12	chr6:13574000-13575200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:13574000-13575400	Active TSS	Lung	lung
14	chr6:13574000-13575600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:13574000-13575600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:13574000-13575600	Active TSS	Aorta	Aorta
17	chr6:13574000-13575600	Active TSS	Colon Smooth Muscle	Colon
18	chr6:13574000-13575600	Active TSS	Gastric	stomach
19	chr6:13574000-13575600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr6:13574000-13575600	Transcr. at gene 5' and 3'	Right Atrium	heart
21	chr6:13574000-13575600	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr6:13574000-13575600	Active TSS	NHDF-Ad	bronchial
23	chr6:13574000-13575600	Active TSS	NHLF	lung
24	chr6:13574000-13575800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:13574000-13575800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:13574000-13575800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:13574000-13575800	Active TSS	Muscle Satellite Cultured Cells	--
28	chr6:13574000-13575800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:13574000-13575800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:13574000-13575800	Active TSS	Fetal Brain Female	brain
31	chr6:13574000-13576000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:13574000-13576000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:13574000-13576000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:13574000-13576200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:13574200-13574800	Active TSS	Primary B cells from cord blood	blood
36	chr6:13574200-13575000	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr6:13574200-13575000	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr6:13574200-13575000	Active TSS	HepG2	liver
39	chr6:13574200-13575000	Active TSS	NH-A	brain
40	chr6:13574200-13575200	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr6:13574200-13575200	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr6:13574200-13575200	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr6:13574200-13575200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:13574200-13575200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:13574200-13575200	Active TSS	Placenta	Placenta
46	chr6:13574200-13575200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:13574200-13575200	Active TSS	HMEC	breast
48	chr6:13574200-13575200	Active TSS	K562	blood
49	chr6:13574200-13575400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:13574200-13575400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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