Variant report

Variant	rs546363676
Chromosome Location	chr7:39991204-39991205
allele	C/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	EP300	chr7:39988999-39991304	ECC-1	luminal epithelium:	n/a	chr7:39989388-39989404 chr7:39989784-39989797 chr7:39989476-39989490 chr7:39989462-39989471 chr7:39990215-39990231 chr7:39989452-39989468 chr7:39989459-39989468 chr7:39989454-39989470 chr7:39989465-39989474 chr7:39989108-39989115
2	CTCF	chr7:39991140-39991290	HPF	lung:	n/a	n/a
3	SMC3	chr7:39991066-39991672	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr7:39991120-39991419	K562	blood:	n/a	n/a
5	MAX	chr7:39990425-39991257	ECC-1	luminal epithelium:	n/a	n/a
6	RUNX3	chr7:39990899-39991570	GM12878	blood:	n/a	n/a
7	CCNT2	chr7:39988676-39991582	K562	blood:	n/a	chr7:39989792-39989801 chr7:39989902-39989911
8	ELF1	chr7:39991091-39991383	K562	blood:	n/a	n/a
9	TAF1	chr7:39990922-39991579	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr7:39991182-39991419	MCF-7	breast:	n/a	n/a
11	SMARCB1	chr7:39988697-39991718	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr7:39991140-39991344	GM13976	blood:	n/a	n/a
13	POLR2A	chr7:39990955-39991657	GM12891	blood:	n/a	n/a
14	CTCF	chr7:39991187-39991360	NHEK	skin:	n/a	n/a
15	CTCF	chr7:39991178-39991362	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr7:39988698-39991685	PANC-1	pancreas:	n/a	n/a
17	CTCF	chr7:39991057-39991496	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:39988029-39991666	GM18951	blood:	n/a	n/a
19	CTCF	chr7:39991180-39991330	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr7:39991047-39991468	K562	blood:	n/a	n/a
21	CTCF	chr7:39991138-39991404	Lung_OC	lung:	n/a	n/a
22	CTCF	chr7:39991180-39991330	GM12866	blood:	n/a	n/a
23	CTCF	chr7:39991154-39991403	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:39991140-39991290	GM12864	blood:	n/a	n/a
25	CTCF	chr7:39990646-39992317	A549	lung:	n/a	chr7:39992206-39992213
26	RFX5	chr7:39991194-39991394	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr7:39991160-39991310	HMEC	breast:	n/a	n/a
28	CTCF	chr7:39991160-39991310	GM12870	blood:	n/a	n/a
29	SMC3	chr7:39991203-39991385	HepG2	liver:	n/a	n/a
30	RCOR1	chr7:39991116-39991412	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr7:39990942-39991887	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr7:39987755-39991690	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr7:39991178-39991348	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:39991180-39991330	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr7:39991180-39991330	HAc	cerebellar:	n/a	n/a
36	CTCF	chr7:39991180-39991330	HFF-Myc	foreskin:	n/a	n/a
37	BCLAF1	chr7:39991025-39991531	GM12878	blood:	n/a	n/a
38	CTCF	chr7:39991180-39991330	RPTEC	kidney:	n/a	n/a
39	MAX	chr7:39990709-39991635	MCF-7	breast:	n/a	n/a
40	POLR2A	chr7:39990807-39991686	Hela-S3	cervix:	n/a	n/a
41	MYC	chr7:39988771-39991570	MCF-7	breast:	n/a	chr7:39989183-39989193 chr7:39989411-39989421
42	CTCF	chr7:39991180-39991330	HCM	heart:	n/a	n/a
43	YY1	chr7:39991067-39991458	K562	blood:	n/a	n/a
44	MAX	chr7:39991130-39991588	K562	blood:	n/a	n/a
45	CTCF	chr7:39991160-39991310	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:39988688-39991667	A549	lung:	n/a	n/a
47	CTCF	chr7:39991128-39991500	MCF-7	breast:	n/a	n/a
48	MAX	chr7:39990435-39991588	A549	lung:	n/a	n/a
49	POLR2A	chr7:39990951-39991833	GM12878	blood:	n/a	n/a
50	CTCF	chr7:39991200-39991350	HEEpiC	esophagus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:39713147..39715672-chr7:39989128..39991236,2	MCF-7	breast:
2	chr7:39989010..39992398-chr7:40024722..40029040,5	MCF-7	breast:
3	chr7:5569837..5570419-chr7:39990754..39991673,2	Hela-S3	cervix:
4	chr7:39985235..39991458-chr7:40172332..40176244,8	K562	blood:

Variant related genes	Relation type
ENSG00000259826	TF binding region
ENSG00000075624	Chromatin interaction
ENSG00000263764	Chromatin interaction
ENSG00000100316	Chromatin interaction
ENSG00000168303	Chromatin interaction
ENSG00000175600	Chromatin interaction
ENSG00000065883	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	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3335126	chr7:39989577-39991875	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39987800-39992800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:39987800-39993200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:39987800-39993400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:39988000-39991400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:39988000-39991400	Active TSS	Esophagus	oesophagus
6	chr7:39988000-39991800	Active TSS	Gastric	stomach
7	chr7:39988000-39991800	Active TSS	Left Ventricle	heart
8	chr7:39988000-39991800	Active TSS	Pancreas	Pancrea
9	chr7:39988000-39992000	Active TSS	Stomach Mucosa	stomach
10	chr7:39988000-39992200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:39988000-39992400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:39988000-39992800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:39988000-39993000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:39988000-39993200	Active TSS	HSMM	muscle
15	chr7:39988000-39993400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:39988000-39993400	Active TSS	Osteobl	bone
17	chr7:39988000-39993600	Active TSS	Colonic Mucosa	Colon
18	chr7:39988000-39993800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:39988000-39993800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:39988000-39994000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:39988200-39991800	Active TSS	Lung	lung
22	chr7:39988200-39992200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:39988200-39992800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:39988200-39993200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:39988200-39993200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr7:39988200-39993200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:39988200-39993200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:39988200-39993200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:39988200-39993200	Active TSS	Colon Smooth Muscle	Colon
30	chr7:39988200-39993200	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr7:39988200-39993200	Active TSS	A549	lung
32	chr7:39988200-39993200	Active TSS	K562	blood
33	chr7:39988200-39993200	Active TSS	NH-A	brain
34	chr7:39988200-39993200	Active TSS	NHDF-Ad	bronchial
35	chr7:39988200-39993400	Active TSS	Aorta	Aorta
36	chr7:39988200-39993400	Active TSS	Psoas Muscle	Psoas
37	chr7:39988200-39993400	Active TSS	Right Ventricle	heart
38	chr7:39988200-39993600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:39988200-39993800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:39988200-39996200	Active TSS	GM12878-XiMat	blood
41	chr7:39988400-39991400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:39988400-39991400	Active TSS	Adipose Nuclei	Adipose
43	chr7:39988400-39991400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr7:39988400-39991400	Active TSS	Fetal Brain Female	brain
45	chr7:39988400-39991400	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr7:39988400-39991400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr7:39988400-39991400	Active TSS	Thymus	Thymus
48	chr7:39988400-39991600	Active TSS	Primary B cells from peripheral blood	blood
49	chr7:39988400-39991600	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:39988400-39991800	Active TSS	Brain Hippocampus Middle	brain

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