Variant report

Variant	rs568629075
Chromosome Location	chr6:30434274-30434275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr6:30434011-30434536	K562	blood:	n/a	n/a
2	PAX5	chr6:30434034-30434454	GM12892	blood:	n/a	n/a
3	GABPA	chr6:30433964-30434682	MCF-7	breast:	n/a	n/a
4	TAF1	chr6:30434171-30434422	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr6:30434074-30434344	K562	blood:	n/a	n/a
6	MYC	chr6:30434113-30434301	K562	blood:	n/a	n/a
7	MAX	chr6:30433960-30434375	A549	lung:	n/a	n/a
8	YY1	chr6:30434136-30434340	A549	lung:	n/a	n/a
9	MAX	chr6:30433902-30434948	A549	lung:	n/a	n/a
10	MAZ	chr6:30434109-30434303	K562	blood:	n/a	n/a
11	MAX	chr6:30433962-30434788	A549	lung:	n/a	n/a
12	UBTF	chr6:30433976-30434784	K562	blood:	n/a	n/a
13	YY1	chr6:30434106-30434433	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:30434260-30434410	HUVEC	blood vessel:	n/a	n/a
15	MAX	chr6:30433688-30434841	K562	blood:	n/a	chr6:30433883-30433894 chr6:30433880-30433895 chr6:30433885-30433894
16	YY1	chr6:30434074-30434495	K562	blood:	n/a	n/a
17	E2F6	chr6:30433915-30434639	A549	lung:	n/a	n/a
18	CCNT2	chr6:30433986-30434442	K562	blood:	n/a	chr6:30434014-30434023
19	FOXP2	chr6:30434058-30434448	PFSK-1	brain:	n/a	n/a
20	RCOR1	chr6:30434080-30434284	HepG2	liver:	n/a	n/a
21	E2F6	chr6:30434017-30434512	K562	blood:	n/a	n/a
22	UBTF	chr6:30433757-30434658	K562	blood:	n/a	n/a
23	MBD4	chr6:30433904-30434338	HepG2	liver:	n/a	n/a
24	GABPA	chr6:30433930-30434352	H1-hESC	embryonic stem cell:	n/a	n/a
25	STAT3	chr6:30434177-30434334	MCF10A-Er-Src	breast:	n/a	chr6:30434236-30434247
26	MAX	chr6:30433989-30434492	ECC-1	luminal epithelium:	n/a	n/a
27	MTA3	chr6:30434185-30434665	GM12878	blood:	n/a	n/a
28	E2F4	chr6:30433997-30434384	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F6	chr6:30434253-30434497	K562	blood:	n/a	n/a
30	YY1	chr6:30433990-30434410	HepG2	liver:	n/a	n/a
31	ELF1	chr6:30433919-30434800	GM12878	blood:	n/a	chr6:30434031-30434044 chr6:30434033-30434042

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30434236-30434286	GM12878	blood:	n/a
2	chr6:30434236-30434286	HMEC	breast:	n/a
3	chr6:30434236-30434286	HCF	heart:	n/a
4	chr6:30434236-30434286	ovcar-3	ovarian:	n/a
5	chr6:30434236-30434286	SKMC	muscle:	n/a
6	chr6:30434236-30434286	U87	brain:	n/a
7	chr6:30434236-30434286	IMR90	lung:	fetal
8	chr6:30434236-30434286	HEEpiC	esophagus:	n/a
9	chr6:30434236-30434286	AG10803	skin:	n/a
10	chr6:30434236-30434286	BE2_C	brain:	n/a
11	chr6:30434236-30434286	AG04449	skin:	fetal
12	chr6:30434236-30434286	Caco-2	colon:	n/a
13	chr6:30434236-30434286	K562	blood:	n/a
14	chr6:30434236-30434286	GM19239	blood:	n/a
15	chr6:30434236-30434286	PFSK-1	brain:	n/a
16	chr6:30434236-30434286	HRCEpiC	kidney:	n/a
17	chr6:30434236-30434286	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:30434236-30434286	HL-60	blood:	n/a
19	chr6:30434236-30434286	LNCaP	prostate:	n/a
20	chr6:30434236-30434286	ECC-1	luminal epithelium:	n/a
21	chr6:30434236-30434286	AG04450	lung:	fetal
22	chr6:30434236-30434286	CMK	blood:	n/a
23	chr6:30434236-30434286	HRE	kidney:	n/a
24	chr6:30434236-30434286	HRPEpiC	eye:	n/a
25	chr6:30434236-30434286	AG09319	gingival:	n/a
26	chr6:30434236-30434286	GM12892	blood:	n/a
27	chr6:30434236-30434286	PANC-1	pancreas:	n/a
28	chr6:30434236-30434286	T-47D	breast:	n/a
29	chr6:30434236-30434286	RPTEC	kidney:	n/a
30	chr6:30434236-30434286	Jurkat	blood:	n/a
31	chr6:30434236-30434286	SK-N-SH	brain:	n/a
32	chr6:30434236-30434286	SK-N-SH_RA	brain:	n/a
33	chr6:30434236-30434286	HCPEpiC	choroid plexus:	n/a
34	chr6:30434236-30434286	AG09309	skin:	n/a
35	chr6:30434236-30434286	NT2-D1	testis:	n/a
36	chr6:30434236-30434286	HNPCEpiC	eye:	n/a
37	chr6:30434236-30434286	SAEC	small airway:	n/a
38	chr6:30434236-30434286	ProgFib	skin:	n/a
39	chr6:30434236-30434286	SK-N-MC	brain:	n/a
40	chr6:30434236-30434286	HAEpiC	amniotic membrane:	n/a
41	chr6:30434236-30434286	H1-hESC	embryonic stem cell:	embryo
42	chr6:30434236-30434286	HIPEpiC	eye:	n/a
43	chr6:30434236-30434286	HepG2	liver:	n/a
44	chr6:30434236-30434286	MCF-7	breast:	n/a
45	chr6:30434236-30434286	HUVEC	blood vessel:	n/a
46	chr6:30434236-30434286	NH-A	brain:	n/a
47	chr6:30434236-30434286	PrEC	prostate:	n/a
48	chr6:30434236-30434286	NHDF-neo	bronchial:	n/a
49	chr6:30434236-30434286	NHBE	bronchial:	n/a
50	chr6:30434236-30434286	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:30431634..30434565-chr6:30582972..30585070,2	K562	blood:
2	chr6:30433130..30435301-chr6:30582917..30586018,4	MCF-7	breast:
3	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:

No data

Variant related genes	Relation type
SUCLA2P1	TF binding region
SUCLA2P1	CpG island
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
6	nsv884065	chr6:30430520-30446055	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv884066	chr6:30430875-30440732	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv884067	chr6:30430875-30446055	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv884068	chr6:30430875-30447987	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
11	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
12	nsv884071	chr6:30433090-30444357	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv884072	chr6:30433611-30447987	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30431800-30434400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr6:30432800-30434400	Enhancers	Spleen	Spleen
3	chr6:30433200-30434800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:30433800-30434400	Bivalent Enhancer	Placenta	Placenta
5	chr6:30433800-30434400	Bivalent Enhancer	Fetal Thymus	thymus
6	chr6:30433800-30434400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr6:30433800-30434400	Active TSS	Right Atrium	heart
8	chr6:30433800-30434600	Enhancers	Lung	lung
9	chr6:30433800-30434600	Bivalent/Poised TSS	Psoas Muscle	Psoas
10	chr6:30433800-30434800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr6:30433800-30434800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:30433800-30434800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:30433800-30434800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr6:30433800-30434800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
18	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr6:30433800-30434800	Bivalent Enhancer	Fetal Kidney	kidney
20	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
22	chr6:30433800-30435000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:30433800-30435000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr6:30434000-30434400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:30434000-30434400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:30434000-30434400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr6:30434000-30434400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:30434000-30434400	Active TSS	Brain Anterior Caudate	brain
29	chr6:30434000-30434400	Bivalent Enhancer	Fetal Brain Male	brain
30	chr6:30434000-30434400	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr6:30434000-30434400	Flanking Active TSS	Pancreas	Pancrea
32	chr6:30434000-30434400	Flanking Active TSS	Right Ventricle	heart
33	chr6:30434000-30434400	Flanking Bivalent TSS/Enh	Thymus	Thymus
34	chr6:30434000-30434400	Bivalent/Poised TSS	HSMM	muscle
35	chr6:30434000-30434400	Bivalent/Poised TSS	K562	blood
36	chr6:30434000-30434600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:30434000-30434600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:30434000-30434600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:30434000-30434600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr6:30434000-30434600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:30434000-30434600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr6:30434000-30434600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr6:30434000-30434600	Active TSS	Ovary	ovary
44	chr6:30434000-30434600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
45	chr6:30434000-30434600	Flanking Bivalent TSS/Enh	HepG2	liver
46	chr6:30434000-30434800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:30434000-30434800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr6:30434000-30434800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr6:30434000-30434800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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