Variant report

Variant	rs57591663
Chromosome Location	chr6:150039865-150039866
allele	A/G
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	GATA1	chr6:150038617-150040028	PBDE	blood:	n/a	chr6:150039753-150039760 chr6:150039692-150039709 chr6:150039753-150039762 chr6:150039701-150039711 chr6:150039701-150039710 chr6:150039703-150039713 chr6:150039753-150039760 chr6:150039703-150039710 chr6:150039703-150039710 chr6:150039752-150039762 chr6:150039754-150039771 chr6:150039746-150039767 chr6:150039753-150039760 chr6:150038726-150038734 chr6:150039701-150039710 chr6:150039703-150039710
2	MAX	chr6:150038583-150039915	SK-N-SH	brain:	n/a	chr6:150038907-150038916
3	HCFC1	chr6:150038185-150040121	Hela-S3	cervix:	n/a	n/a
4	MAZ	chr6:150038608-150039912	K562	blood:	n/a	chr6:150038907-150038916
5	CEBPD	chr6:150038875-150040063	K562	blood:	n/a	n/a
6	HEY1	chr6:150038517-150040004	K562	blood:	n/a	chr6:150038920-150038935
7	POLR2A	chr6:150038549-150039919	ECC-1	luminal epithelium:	n/a	n/a
8	STAT1	chr6:150039767-150039922	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:150038543-150040092	GM12878	blood:	n/a	n/a
10	GATA3	chr6:150039608-150039937	MCF-7	breast:	n/a	chr6:150039752-150039760 chr6:150039753-150039760 chr6:150039692-150039709 chr6:150039753-150039762 chr6:150039701-150039711 chr6:150039702-150039710 chr6:150039701-150039710 chr6:150039703-150039713 chr6:150039753-150039760 chr6:150039703-150039710 chr6:150039703-150039710 chr6:150039752-150039762 chr6:150039754-150039771 chr6:150039746-150039767 chr6:150039753-150039760 chr6:150039701-150039710 chr6:150039703-150039710
11	ELK4	chr6:150038717-150039886	Hela-S3	cervix:	n/a	n/a
12	STAT5A	chr6:150038495-150039940	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:150038615-150039984	K562	blood:	n/a	n/a
14	JUN	chr6:150039032-150039962	K562	blood:	n/a	n/a
15	TAF1	chr6:150038451-150039911	ECC-1	luminal epithelium:	n/a	n/a
16	TBP	chr6:150038229-150039962	Hela-S3	cervix:	n/a	n/a
17	ESR1	chr6:150039623-150039981	T-47D	breast:	n/a	n/a
18	NR2F2	chr6:150038460-150040087	K562	blood:	n/a	n/a
19	CUX1	chr6:150039227-150040072	K562	blood:	n/a	chr6:150039726-150039742
20	MAX	chr6:150038598-150039911	NB4	blood:	n/a	chr6:150038907-150038916
21	POLR2A	chr6:150038497-150040000	H1-neurons	neurons:	n/a	n/a
22	MAX	chr6:150038283-150040103	K562	blood:	n/a	chr6:150038907-150038916
23	ELK1	chr6:150039121-150039869	K562	blood:	n/a	n/a
24	REST	chr6:150038514-150039883	K562	blood:	n/a	n/a
25	ESR1	chr6:150039548-150039902	T-47D	breast:	n/a	n/a
26	GATA3	chr6:150038464-150040082	MCF-7	breast:	n/a	chr6:150039752-150039760 chr6:150039753-150039760 chr6:150039692-150039709 chr6:150039753-150039762 chr6:150039701-150039711 chr6:150039702-150039710 chr6:150039701-150039710 chr6:150039703-150039713 chr6:150039753-150039760 chr6:150039703-150039710 chr6:150039703-150039710 chr6:150039752-150039762 chr6:150039754-150039771 chr6:150039746-150039767 chr6:150039753-150039760 chr6:150038726-150038734 chr6:150039701-150039710 chr6:150039703-150039710
27	PML	chr6:150038817-150040128	K562	blood:	n/a	n/a
28	TEAD4	chr6:150038427-150040025	K562	blood:	n/a	n/a
29	POLR2A	chr6:150038673-150039920	K562	blood:	n/a	n/a
30	POLR2A	chr6:150038397-150040016	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr6:150038440-150039996	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr6:150038734-150039887	GM12878	blood:	n/a	n/a
33	MAX	chr6:150038431-150039934	HepG2	liver:	n/a	chr6:150038907-150038916
34	CEBPD	chr6:150038599-150040078	K562	blood:	n/a	n/a
35	POLR2A	chr6:150036887-150041282	K562	blood:	n/a	n/a
36	POLR2A	chr6:150038521-150040034	MCF-7	breast:	n/a	n/a
37	GATA2	chr6:150039488-150039876	K562	blood:	n/a	chr6:150039753-150039760 chr6:150039692-150039709 chr6:150039753-150039762 chr6:150039701-150039711 chr6:150039701-150039710 chr6:150039703-150039713 chr6:150039753-150039760 chr6:150039703-150039710 chr6:150039748-150039762 chr6:150039703-150039710 chr6:150039752-150039762 chr6:150039754-150039771 chr6:150039746-150039767 chr6:150039753-150039760 chr6:150039701-150039710 chr6:150039703-150039710
38	UBTF	chr6:150038327-150039971	K562	blood:	n/a	n/a
39	GATA3	chr6:150039547-150039891	T-47D	breast:	n/a	chr6:150039752-150039760 chr6:150039753-150039760 chr6:150039692-150039709 chr6:150039753-150039762 chr6:150039701-150039711 chr6:150039702-150039710 chr6:150039701-150039710 chr6:150039703-150039713 chr6:150039753-150039760 chr6:150039703-150039710 chr6:150039703-150039710 chr6:150039752-150039762 chr6:150039754-150039771 chr6:150039746-150039767 chr6:150039753-150039760 chr6:150039701-150039710 chr6:150039703-150039710
40	NR2F2	chr6:150039256-150039973	K562	blood:	n/a	n/a
41	POLR2A	chr6:150038543-150039958	K562	blood:	n/a	n/a
42	MYC	chr6:150037962-150040107	K562	blood:	n/a	chr6:150038907-150038916
43	WRNIP1	chr6:150039286-150039908	GM12878	blood:	n/a	n/a
44	GATA3	chr6:150039439-150040058	SH-SY5Y	brain:	n/a	chr6:150039752-150039760 chr6:150039753-150039760 chr6:150039692-150039709 chr6:150039753-150039762 chr6:150039701-150039711 chr6:150039702-150039710 chr6:150039701-150039710 chr6:150039703-150039713 chr6:150039753-150039760 chr6:150039703-150039710 chr6:150039703-150039710 chr6:150039752-150039762 chr6:150039754-150039771 chr6:150039746-150039767 chr6:150039753-150039760 chr6:150039701-150039710 chr6:150039703-150039710
45	RELA	chr6:150038948-150039953	GM10847	blood:	n/a	n/a
46	GATA2	chr6:150039543-150039938	K562	blood:	n/a	chr6:150039753-150039760 chr6:150039692-150039709 chr6:150039753-150039762 chr6:150039701-150039711 chr6:150039701-150039710 chr6:150039703-150039713 chr6:150039753-150039760 chr6:150039703-150039710 chr6:150039748-150039762 chr6:150039703-150039710 chr6:150039752-150039762 chr6:150039754-150039771 chr6:150039746-150039767 chr6:150039753-150039760 chr6:150039701-150039710 chr6:150039703-150039710
47	HA-E2F1	chr6:150038450-150040637	MCF-7	breast:	n/a	chr6:150039610-150039617 chr6:150039449-150039464 chr6:150039453-150039465
48	MYC	chr6:150038327-150040009	K562	blood:	n/a	chr6:150038907-150038916
49	MTA3	chr6:150038411-150040033	GM12878	blood:	n/a	n/a
50	HDAC2	chr6:150038475-150039963	MCF-7	breast:	n/a	chr6:150039702-150039711 chr6:150038883-150038902

No.	Distal block	Cell Line	Cell type
1	chr6:149886717..149888905-chr6:150037583..150040474,2	MCF-7	breast:
2	chr6:149864465..149868641-chr6:150037478..150040253,6	MCF-7	breast:
3	chr6:149866797..149869221-chr6:150037385..150040762,4	K562	blood:
4	chr6:150039646..150042123-chr6:150090131..150092375,2	K562	blood:
5	chr6:149969487..149971965-chr6:150038903..150040820,3	K562	blood:
6	chr6:150037573..150039874-chr7:99755624..99757771,2	MCF-7	breast:
7	chr6:149967309..149971944-chr6:150037502..150040952,6	MCF-7	breast:
8	chr5:172197749..172198455-chr6:150038887..150039868,2	Hela-S3	cervix:
9	chr6:150036817..150045008-chr6:150066563..150073628,17	MCF-7	breast:
10	chr6:150037658..150040820-chr6:150066171..150069234,4	MCF-7	breast:
11	chr6:150022443..150028756-chr6:150036776..150040441,8	MCF-7	breast:
12	chr6:149887426..149891060-chr6:150037726..150040656,4	K562	blood:
13	chr6:149884840..149889202-chr6:150038504..150040931,4	K562	blood:
14	chr6:149967293..149971613-chr6:150037790..150041524,8	K562	blood:
15	chr6:149352728..149354619-chr6:150038400..150040013,2	MCF-7	breast:
16	chr6:150037915..150040218-chr6:150069685..150072655,4	MCF-7	breast:
17	chr6:150038744..150042586-chr6:150067819..150072874,7	K562	blood:

Variant related genes	Relation type
LATS1	TF binding region
ENSG00000120129	Chromatin interaction
ENSG00000236591	Chromatin interaction
ENSG00000055211	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000120265	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000120253	Chromatin interaction
ENSG00000186625	Chromatin interaction
ENSG00000131023	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55692529	1.00[AFR][1000 genomes]
rs58186084	0.91[AFR][1000 genomes]
rs59023035	0.84[AFR][1000 genomes]
rs59398826	0.95[AFR][1000 genomes]
rs59474449	0.91[AFR][1000 genomes]
rs73779550	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv3475167	chr6:150003006-150086225	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3475168	chr6:150003006-150086225	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr6:150035400-150040000	Active TSS	GM12878-XiMat	blood
2	chr6:150036800-150040200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:150037200-150040000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:150037200-150040200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr6:150037200-150040200	Active TSS	Colonic Mucosa	Colon
6	chr6:150037400-150040000	Active TSS	Esophagus	oesophagus
7	chr6:150037400-150040000	Active TSS	Fetal Intestine Large	intestine
8	chr6:150037400-150040000	Active TSS	Psoas Muscle	Psoas
9	chr6:150037400-150040000	Active TSS	Stomach Mucosa	stomach
10	chr6:150037400-150040000	Active TSS	NHLF	lung
11	chr6:150037600-150040000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:150037600-150040000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:150037600-150040000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:150037600-150040000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:150037600-150040000	Active TSS	Left Ventricle	heart
16	chr6:150037600-150040000	Active TSS	Right Ventricle	heart
17	chr6:150037600-150040000	Active TSS	A549	lung
18	chr6:150037600-150040000	Active TSS	HSMM	muscle
19	chr6:150037600-150040200	Active TSS	Brain Germinal Matrix	brain
20	chr6:150037600-150040200	Active TSS	Fetal Brain Female	brain
21	chr6:150037600-150040200	Active TSS	Hela-S3	cervix
22	chr6:150037600-150040200	Active TSS	HMEC	breast
23	chr6:150037800-150040000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:150037800-150040000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:150037800-150040000	Active TSS	Aorta	Aorta
26	chr6:150037800-150040000	Active TSS	Lung	lung
27	chr6:150037800-150040000	Active TSS	Ovary	ovary
28	chr6:150038000-150040000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:150038000-150040000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:150038000-150040000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:150038000-150040000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:150038000-150040000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr6:150038000-150040000	Active TSS	Small Intestine	intestine
34	chr6:150038000-150040000	Active TSS	Thymus	Thymus
35	chr6:150038000-150040200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:150038000-150040200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr6:150038200-150040000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:150038200-150040000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr6:150038200-150040000	Active TSS	Fetal Muscle Trunk	muscle
40	chr6:150038200-150040200	Active TSS	Brain Anterior Caudate	brain
41	chr6:150038200-150040600	Active TSS	Placenta	Placenta
42	chr6:150038400-150040000	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:150038400-150040000	ZNF genes & repeats	Fetal Brain Male	brain
44	chr6:150038400-150040000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr6:150038400-150040000	Active TSS	Pancreas	Pancrea
46	chr6:150038400-150040200	Active TSS	Fetal Kidney	kidney
47	chr6:150038600-150040000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr6:150038600-150040200	Active TSS	Duodenum Mucosa	Duodenum
49	chr6:150039200-150040200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:150039200-150040200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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