Variant report

Variant	rs74865052
Chromosome Location	chr6:45389658-45389659
allele	A/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	GTF2F1	chr6:45389137-45389753	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr6:45389403-45390492	Hela-S3	cervix:	n/a	n/a
3	ZNF263	chr6:45389303-45390284	HEK293-T-REx	kidney:	n/a	n/a
4	E2F6	chr6:45389657-45389883	K562	blood:	n/a	n/a
5	SMC3	chr6:45389581-45389905	K562	blood:	n/a	n/a
6	EP300	chr6:45389200-45391505	SK-N-SH	brain:	n/a	n/a
7	MYC	chr6:45389611-45389982	MCF10A-Er-Src	breast:	n/a	n/a
8	MAZ	chr6:45389117-45390768	Hela-S3	cervix:	n/a	chr6:45389137-45389147
9	REST	chr6:45389605-45389835	SK-N-SH	brain:	n/a	n/a
10	MAX	chr6:45389287-45390097	K562	blood:	n/a	n/a
11	RAD21	chr6:45389183-45389768	HCT-116	colon:	n/a	n/a
12	MAX	chr6:45389245-45390616	A549	lung:	n/a	n/a
13	TCF7L2	chr6:45389467-45390734	HCT-116	colon:	n/a	n/a
14	HMGN3	chr6:45389378-45390828	K562	blood:	n/a	n/a
15	POLR2A	chr6:45389321-45389775	U87	brain:	n/a	n/a
16	ZNF143	chr6:45389419-45389678	Hela-S3	cervix:	n/a	n/a
17	E2F6	chr6:45389325-45390239	K562	blood:	n/a	n/a
18	MAX	chr6:45389313-45391254	NB4	blood:	n/a	n/a
19	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
20	POLR2A	chr6:45389182-45392710	HL-60	blood:	n/a	n/a
21	BHLHE40	chr6:45389445-45389960	K562	blood:	n/a	n/a
22	MAX	chr6:45389076-45389699	SK-N-SH	brain:	n/a	chr6:45389137-45389147
23	ZBTB7A	chr6:45389658-45390067	K562	blood:	n/a	n/a
24	RAD21	chr6:45389242-45390204	MCF-7	breast:	n/a	n/a
25	ZMIZ1	chr6:45389604-45389677	K562	blood:	n/a	n/a
26	CTCF	chr6:45389540-45389690	NHDF-neo	bronchial:	n/a	n/a
27	E2F6	chr6:45389615-45389937	K562	blood:	n/a	n/a
28	MAX	chr6:45389170-45390213	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:45389134-45390316	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:45389166-45392571	HL-60	blood:	n/a	n/a
31	CHD1	chr6:45388363-45391883	IMR90	lung:	n/a	chr6:45391066-45391076 chr6:45391635-45391645
32	HA-E2F1	chr6:45389392-45390136	Hela-S3	cervix:	n/a	chr6:45389783-45389794
33	CTCF	chr6:45389580-45389730	GM12874	blood:	n/a	n/a
34	SMC3	chr6:45389042-45390791	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:45389483-45390047	ECC-1	luminal epithelium:	n/a	n/a
36	MYC	chr6:45389306-45390210	NB4	blood:	n/a	n/a
37	SIN3A	chr6:45389123-45390301	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr6:45389332-45390081	GM12878	blood:	n/a	n/a
39	EP300	chr6:45389310-45390037	ECC-1	luminal epithelium:	n/a	n/a
40	RFX5	chr6:45389275-45390165	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr6:45389301-45392277	MCF-7	breast:	n/a	n/a
42	YY1	chr6:45389633-45390053	HepG2	liver:	n/a	n/a
43	RAD21	chr6:45389324-45390230	A549	lung:	n/a	n/a
44	HCFC1	chr6:45389293-45390172	K562	blood:	n/a	n/a
45	RAD21	chr6:45389268-45390185	ECC-1	luminal epithelium:	n/a	n/a
46	CHD2	chr6:45389267-45390419	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr6:45389273-45390141	SK-N-SH_RA	brain:	n/a	n/a
48	TBL1XR1	chr6:45389623-45390019	K562	blood:	n/a	n/a
49	BACH1	chr6:45389412-45389753	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr6:45389565-45390231	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45387795..45389727-chr6:45621998..45623537,2	MCF-7	breast:
2	chr6:45343131..45346998-chr6:45386286..45389886,4	MCF-7	breast:

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

Variant related genes	Relation type
RUNX2	TF binding region
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	chr6:45387000-45389800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr6:45387000-45391800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr6:45387000-45392200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:45387200-45390800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr6:45387400-45391000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr6:45387800-45390000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr6:45388200-45390800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
8	chr6:45388200-45391800	Active TSS	Ovary	ovary
9	chr6:45388200-45392000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:45388200-45392000	Active TSS	NHDF-Ad	bronchial
11	chr6:45388200-45392400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:45388400-45393400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:45388600-45390000	Active TSS	Right Ventricle	heart
14	chr6:45388600-45390200	Active TSS	Right Atrium	heart
15	chr6:45388600-45390800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:45388600-45390800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr6:45388600-45390800	Active TSS	Small Intestine	intestine
18	chr6:45388600-45391000	Active TSS	Brain Angular Gyrus	brain
19	chr6:45388600-45391600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:45388600-45391800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:45388600-45392000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr6:45388600-45392200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:45388600-45392800	Active TSS	HSMM	muscle
24	chr6:45388600-45393000	Active TSS	NHLF	lung
25	chr6:45388800-45390000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:45388800-45390800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:45388800-45390800	Active TSS	Brain Anterior Caudate	brain
28	chr6:45388800-45391400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:45388800-45391800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:45388800-45391800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:45388800-45392000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:45388800-45392400	Active TSS	HSMMtube	muscle
33	chr6:45389000-45390400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:45389000-45391200	Active TSS	HMEC	breast
35	chr6:45389000-45391800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:45389000-45392200	Active TSS	Osteobl	bone
37	chr6:45389000-45392400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:45389000-45392400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:45389000-45392600	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr6:45389200-45390000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:45389200-45390000	Active TSS	Lung	lung
42	chr6:45389200-45390400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr6:45389200-45390400	Flanking Active TSS	Liver	Liver
44	chr6:45389200-45390400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr6:45389200-45390800	Active TSS	Fetal Kidney	kidney
46	chr6:45389200-45391000	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr6:45389200-45391600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:45389200-45391600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
49	chr6:45389200-45391600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr6:45389200-45391800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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