Variant report

Variant	rs565628738
Chromosome Location	chr6:45389328-45389329
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:45389180-45389330	NB4	blood:	n/a	n/a
2	GTF2F1	chr6:45389137-45389753	Hela-S3	cervix:	n/a	n/a
3	ZNF263	chr6:45389303-45390284	HEK293-T-REx	kidney:	n/a	n/a
4	EP300	chr6:45389200-45391505	SK-N-SH	brain:	n/a	n/a
5	MAZ	chr6:45389117-45390768	Hela-S3	cervix:	n/a	chr6:45389137-45389147
6	MAX	chr6:45389287-45390097	K562	blood:	n/a	n/a
7	RAD21	chr6:45389183-45389768	HCT-116	colon:	n/a	n/a
8	POLR2A	chr6:45389151-45389446	U87	brain:	n/a	n/a
9	MAX	chr6:45389245-45390616	A549	lung:	n/a	n/a
10	POLR2A	chr6:45389321-45389775	U87	brain:	n/a	n/a
11	KAP1	chr6:45389300-45389605	HEK293	kidney:	n/a	n/a
12	E2F6	chr6:45389325-45390239	K562	blood:	n/a	n/a
13	RAD21	chr6:45389305-45389643	HepG2	liver:	n/a	n/a
14	MAX	chr6:45389313-45391254	NB4	blood:	n/a	n/a
15	RAD21	chr6:45388419-45392074	IMR90	lung:	n/a	chr6:45391794-45391808 chr6:45392039-45392052 chr6:45390904-45390916 chr6:45390740-45390753 chr6:45391581-45391591 chr6:45388466-45388478
16	POLR2A	chr6:45389182-45392710	HL-60	blood:	n/a	n/a
17	MAX	chr6:45389076-45389699	SK-N-SH	brain:	n/a	chr6:45389137-45389147
18	RAD21	chr6:45389242-45390204	MCF-7	breast:	n/a	n/a
19	MAX	chr6:45389170-45390213	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr6:45389134-45390316	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:45389166-45392571	HL-60	blood:	n/a	n/a
22	CHD1	chr6:45388363-45391883	IMR90	lung:	n/a	chr6:45391066-45391076 chr6:45391635-45391645
23	MAFK	chr6:45389190-45389579	Hela-S3	cervix:	n/a	n/a
24	SMC3	chr6:45389042-45390791	Hela-S3	cervix:	n/a	n/a
25	MYC	chr6:45389306-45390210	NB4	blood:	n/a	n/a
26	SIN3A	chr6:45389123-45390301	H1-hESC	embryonic stem cell:	n/a	n/a
27	TBL1XR1	chr6:45389277-45389383	K562	blood:	n/a	n/a
28	EP300	chr6:45389310-45390037	ECC-1	luminal epithelium:	n/a	n/a
29	RFX5	chr6:45389275-45390165	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:45389301-45392277	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:45389240-45389390	HAc	cerebellar:	n/a	n/a
32	RAD21	chr6:45389324-45390230	A549	lung:	n/a	n/a
33	TAF1	chr6:45389246-45389570	Hela-S3	cervix:	n/a	n/a
34	HCFC1	chr6:45389293-45390172	K562	blood:	n/a	n/a
35	RAD21	chr6:45389268-45390185	ECC-1	luminal epithelium:	n/a	n/a
36	CHD2	chr6:45389267-45390419	Hela-S3	cervix:	n/a	n/a
37	RAD21	chr6:45389273-45390141	SK-N-SH_RA	brain:	n/a	n/a
38	RAD21	chr6:45389311-45390103	K562	blood:	n/a	n/a
39	CTCF	chr6:45389280-45389550	WI-38	lung:	n/a	n/a
40	TCF7L2	chr6:45389274-45390267	Hela-S3	cervix:	n/a	n/a
41	MAX	chr6:45389286-45390079	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr6:45388973-45389841	H1-neurons	neurons:	n/a	n/a
43	RAD21	chr6:45389259-45390129	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZBTB7A	chr6:45389160-45389703	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr6:45389255-45390289	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr6:45389260-45389798	Hela-S3	cervix:	n/a	n/a
47	MAX	chr6:45389267-45390190	SK-N-SH	brain:	n/a	n/a
48	CTBP2	chr6:45389219-45389758	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr6:45389256-45390144	MCF-7	breast:	n/a	n/a
50	MXI1	chr6:45389223-45392118	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:45389313-45389363	PFSK-1	brain:	n/a
2	chr6:45389313-45389363	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:45389313-45389363	ovcar-3	ovarian:	n/a
4	chr6:45389313-45389363	MCF10A-Er-Src	breast:	n/a
5	chr6:45389313-45389363	SK-N-SH_RA	brain:	n/a
6	chr6:45389313-45389363	NB4	blood:	n/a
7	chr6:45389313-45389363	GM12892	blood:	n/a
8	chr6:45389313-45389363	Caco-2	colon:	n/a
9	chr6:45389313-45389363	PrEC	prostate:	n/a
10	chr6:45389313-45389363	T-47D	breast:	n/a
11	chr6:45389313-45389363	NT2-D1	testis:	n/a
12	chr6:45389313-45389363	AoSMC	blood vessel:	n/a
13	chr6:45389313-45389363	CMK	blood:	n/a
14	chr6:45389313-45389363	BJ	skin:	n/a
15	chr6:45389313-45389363	ProgFib	skin:	n/a
16	chr6:45389313-45389363	MCF-7	breast:	n/a
17	chr6:45389313-45389363	HCM	heart:	n/a
18	chr6:45389313-45389363	BE2_C	brain:	n/a
19	chr6:45389313-45389363	HEK293	kidney:	embryo
20	chr6:45389313-45389363	GM06990	blood:	n/a
21	chr6:45389313-45389363	AG10803	skin:	n/a
22	chr6:45389313-45389363	AG04450	lung:	fetal
23	chr6:45389313-45389363	Jurkat	blood:	n/a
24	chr6:45389313-45389363	HUVEC	blood vessel:	n/a
25	chr6:45389313-45389363	NHDF-neo	bronchial:	n/a
26	chr6:45389313-45389363	SAEC	small airway:	n/a
27	chr6:45389313-45389363	HEEpiC	esophagus:	n/a
28	chr6:45389313-45389363	U87	brain:	n/a
29	chr6:45389313-45389363	HepG2	liver:	n/a
30	chr6:45389313-45389363	RPTEC	kidney:	n/a
31	chr6:45389313-45389363	HL-60	blood:	n/a
32	chr6:45389313-45389363	Hepatocyte	liver:	n/a
33	chr6:45389313-45389363	GM19239	blood:	n/a
34	chr6:45389313-45389363	NH-A	brain:	n/a
35	chr6:45389313-45389363	AG09319	gingival:	n/a
36	chr6:45389313-45389363	SK-N-MC	brain:	n/a
37	chr6:45389313-45389363	IMR90	lung:	fetal
38	chr6:45389313-45389363	SKMC	muscle:	n/a
39	chr6:45389313-45389363	NHBE	bronchial:	n/a
40	chr6:45389313-45389363	A549	lung:	n/a
41	chr6:45389313-45389363	H1-hESC	embryonic stem cell:	embryo
42	chr6:45389313-45389363	HCPEpiC	choroid plexus:	n/a
43	chr6:45389313-45389363	HCF	heart:	n/a
44	chr6:45389313-45389363	AG09309	skin:	n/a
45	chr6:45389313-45389363	AG04449	skin:	fetal
46	chr6:45389313-45389363	HNPCEpiC	eye:	n/a
47	chr6:45389313-45389363	HRE	kidney:	n/a
48	chr6:45389313-45389363	PANC-1	pancreas:	n/a
49	chr6:45389313-45389363	ECC-1	luminal epithelium:	n/a
50	chr6:45389313-45389363	GM12891	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45388588..45389630-chr6:45682064..45682718,3	MCF-7	breast:
2	chr6:45343194..45347445-chr6:45386856..45389425,4	MCF-7	breast:
3	chr6:45387795..45389727-chr6:45621998..45623537,2	MCF-7	breast:
4	chr6:45343131..45346998-chr6:45386286..45389886,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUPT3H-2	chr6:45388816-45389742	ENSG00000271857.1

No data

Variant related genes	Relation type
RUNX2	TF binding region
RUNX2	CpG island
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3495915	chr6:45388574-45392472	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3495916	chr6:45388574-45392472	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr6:45386800-45389400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:45386800-45389400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:45387000-45389400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr6:45387000-45389800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr6:45387000-45391800	Bivalent Enhancer	Fetal Brain Male	brain
6	chr6:45387000-45392200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:45387200-45389400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:45387200-45389400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:45387200-45389600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr6:45387200-45389600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
11	chr6:45387200-45390800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
12	chr6:45387400-45389400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:45387400-45389600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:45387400-45391000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr6:45387600-45389600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
16	chr6:45387800-45389400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:45387800-45389400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
18	chr6:45387800-45389400	Bivalent Enhancer	HUVEC	blood vessel
19	chr6:45387800-45389600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr6:45387800-45390000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr6:45388200-45389400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:45388200-45389400	Bivalent/Poised TSS	Aorta	Aorta
23	chr6:45388200-45389400	Weak transcription	Gastric	stomach
24	chr6:45388200-45389400	Weak transcription	Pancreas	Pancrea
25	chr6:45388200-45389400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
26	chr6:45388200-45389600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:45388200-45390800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr6:45388200-45391800	Active TSS	Ovary	ovary
29	chr6:45388200-45392000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:45388200-45392000	Active TSS	NHDF-Ad	bronchial
31	chr6:45388200-45392400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:45388400-45389400	Bivalent/Poised TSS	A549	lung
33	chr6:45388400-45389400	Flanking Active TSS	Hela-S3	cervix
34	chr6:45388400-45389600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:45388400-45393400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:45388600-45389600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr6:45388600-45390000	Active TSS	Right Ventricle	heart
38	chr6:45388600-45390200	Active TSS	Right Atrium	heart
39	chr6:45388600-45390800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:45388600-45390800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr6:45388600-45390800	Active TSS	Small Intestine	intestine
42	chr6:45388600-45391000	Active TSS	Brain Angular Gyrus	brain
43	chr6:45388600-45391600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:45388600-45391800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:45388600-45392000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr6:45388600-45392200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:45388600-45392800	Active TSS	HSMM	muscle
48	chr6:45388600-45393000	Active TSS	NHLF	lung
49	chr6:45388800-45389400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr6:45388800-45389400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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