Variant report

Variant	rs572051501
Chromosome Location	chr6:131456246-131456247
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	CEBPB	chr6:131456011-131456610	A549	lung:	n/a	chr6:131456292-131456305 chr6:131456294-131456305 chr6:131456292-131456303 chr6:131456294-131456305
2	MAX	chr6:131456030-131457706	HepG2	liver:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
3	MAX	chr6:131456230-131457117	SK-N-SH	brain:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
4	CEBPB	chr6:131456151-131456467	K562	blood:	n/a	chr6:131456292-131456305 chr6:131456294-131456305 chr6:131456292-131456303 chr6:131456294-131456305
5	MAX	chr6:131456168-131457189	MCF-7	breast:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
6	ZKSCAN1	chr6:131456226-131457534	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:131455747-131457842	MCF10A-Er-Src	breast:	n/a	n/a
8	TAF1	chr6:131456232-131456876	PFSK-1	brain:	n/a	n/a
9	STAT3	chr6:131456168-131456482	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr6:131456107-131456516	A549	lung:	n/a	chr6:131456292-131456305 chr6:131456294-131456305 chr6:131456292-131456303 chr6:131456294-131456305
11	CEBPB	chr6:131456103-131456505	MCF-7	breast:	n/a	chr6:131456292-131456305 chr6:131456294-131456305 chr6:131456292-131456303 chr6:131456294-131456305
12	POLR2A	chr6:131456095-131456707	U87	brain:	n/a	n/a
13	STAT3	chr6:131456084-131456470	MCF10A-Er-Src	breast:	n/a	n/a
14	YY1	chr6:131456242-131457048	HCT-116	colon:	n/a	chr6:131456436-131456445 chr6:131456948-131456959 chr6:131456950-131456959
15	POLR2A	chr6:131456240-131457108	IMR90	lung:	n/a	n/a
16	CREB1	chr6:131456214-131457650	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:131456238-131456835	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr6:131456157-131456677	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr6:131456196-131457258	PANC-1	pancreas:	n/a	n/a
20	CEBPB	chr6:131456223-131456482	HepG2	liver:	n/a	chr6:131456292-131456305 chr6:131456294-131456305 chr6:131456292-131456303 chr6:131456294-131456305
21	EGR1	chr6:131456244-131456920	H1-hESC	embryonic stem cell:	n/a	chr6:131456373-131456386 chr6:131456374-131456385 chr6:131456433-131456443 chr6:131456534-131456544 chr6:131456373-131456387 chr6:131456375-131456385
22	MAX	chr6:131456029-131457229	HCT-116	colon:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
23	RFX5	chr6:131456246-131456569	Hela-S3	cervix:	n/a	n/a
24	HDAC2	chr6:131456196-131457602	HepG2	liver:	n/a	chr6:131457186-131457200
25	MAX	chr6:131456191-131456487	A549	lung:	n/a	chr6:131456304-131456314 chr6:131456434-131456444 chr6:131456378-131456388
26	CEBPB	chr6:131456079-131456574	Hela-S3	cervix:	n/a	chr6:131456292-131456305 chr6:131456294-131456305 chr6:131456292-131456303 chr6:131456294-131456305
27	POLR2A	chr6:131455744-131457623	HepG2	liver:	n/a	n/a
28	MYC	chr6:131456149-131457326	K562	blood:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
29	POLR2A	chr6:131456212-131457259	Hela-S3	cervix:	n/a	n/a
30	KAP1	chr6:131456132-131456721	HEK293	kidney:	n/a	n/a
31	MYC	chr6:131456009-131457421	MCF10A-Er-Src	breast:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
32	TEAD4	chr6:131455929-131456689	HepG2	liver:	n/a	n/a
33	MYC	chr6:131456120-131457336	A549	lung:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
34	E2F4	chr6:131456203-131456660	MCF10A-Er-Src	breast:	n/a	n/a
35	EP300	chr6:131456215-131457122	ECC-1	luminal epithelium:	n/a	chr6:131457016-131457025 chr6:131456938-131456954 chr6:131456881-131456890 chr6:131456939-131456955
36	E2F6	chr6:131456168-131457232	H1-hESC	embryonic stem cell:	n/a	chr6:131457151-131457160 chr6:131457016-131457025
37	SP1	chr6:131456192-131456538	A549	lung:	n/a	chr6:131456378-131456388
38	MAX	chr6:131456092-131457248	HCT-116	colon:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
39	STAT3	chr6:131456052-131456475	MCF10A-Er-Src	breast:	n/a	n/a
40	MAX	chr6:131456142-131457154	ECC-1	luminal epithelium:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
41	POLR2A	chr6:131456220-131457223	Gliobla	brain:	n/a	n/a
42	MAX	chr6:131456176-131457132	NB4	blood:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
43	TAF7	chr6:131456182-131457005	H1-hESC	embryonic stem cell:	n/a	n/a
44	HEY1	chr6:131456201-131457666	HepG2	liver:	n/a	chr6:131456942-131456957
45	MAX	chr6:131456192-131457265	K562	blood:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
46	CEBPB	chr6:131456112-131456482	IMR90	lung:	n/a	chr6:131456292-131456305 chr6:131456294-131456305 chr6:131456292-131456303 chr6:131456294-131456305
47	MAZ	chr6:131456221-131457273	Hela-S3	cervix:	n/a	chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
48	RCOR1	chr6:131456213-131457208	Hela-S3	cervix:	n/a	n/a
49	TCF7L2	chr6:131456238-131456605	PANC-1	pancreas:	n/a	n/a
50	MAX	chr6:131456090-131457613	HepG2	liver:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388

No.	Distal block	Cell Line	Cell type
1	chr6:131455039..131456597-chr6:131460458..131462514,2	K562	blood:
2	chr1:1509737..1510642-chr6:131456190..131456991,2	Hela-S3	cervix:
3	chr6:131452705..131454330-chr6:131455080..131456599,2	K562	blood:

Variant related genes	Relation type
AKAP7	TF binding region
ENSG00000160075	Chromatin interaction
ENSG00000215014	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv3398888	chr6:131455859-131457857	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131455600-131456400	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr6:131455600-131456400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:131455600-131458000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:131455600-131458200	Active TSS	Stomach Smooth Muscle	stomach
5	chr6:131455800-131456400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:131455800-131456400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr6:131455800-131456400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr6:131455800-131456400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr6:131455800-131456400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:131455800-131456400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:131455800-131456400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:131455800-131456400	Flanking Active TSS	Liver	Liver
13	chr6:131455800-131456400	Flanking Active TSS	HMEC	breast
14	chr6:131455800-131456600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr6:131455800-131456600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr6:131455800-131457200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:131455800-131457400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:131455800-131457400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr6:131455800-131457600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr6:131455800-131457600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:131455800-131457600	Active TSS	Brain Angular Gyrus	brain
22	chr6:131455800-131457600	Active TSS	NH-A	brain
23	chr6:131455800-131457800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:131455800-131457800	Active TSS	Psoas Muscle	Psoas
25	chr6:131455800-131457800	Active TSS	HSMM	muscle
26	chr6:131455800-131458000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:131456000-131456400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr6:131456000-131456400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:131456000-131456400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr6:131456000-131456400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr6:131456000-131456400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr6:131456000-131456400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr6:131456000-131456400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:131456000-131456400	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr6:131456000-131456400	Flanking Active TSS	Fetal Brain Male	brain
36	chr6:131456000-131456400	Flanking Active TSS	Fetal Heart	heart
37	chr6:131456000-131456400	Flanking Active TSS	Fetal Kidney	kidney
38	chr6:131456000-131456400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:131456000-131456400	Flanking Active TSS	HUVEC	blood vessel
40	chr6:131456000-131456400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr6:131456000-131456600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:131456000-131457000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr6:131456000-131457000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:131456000-131457000	Active TSS	HepG2	liver
45	chr6:131456000-131457200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr6:131456000-131457200	Active TSS	Brain Germinal Matrix	brain
47	chr6:131456000-131457200	Active TSS	Fetal Intestine Small	intestine
48	chr6:131456000-131457200	Active TSS	Hela-S3	cervix
49	chr6:131456000-131457200	Active TSS	NHEK	skin
50	chr6:131456000-131457400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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