Variant report

Variant	rs143573773
Chromosome Location	chr7:66093035-66093036
allele	C/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	POLR2A	chr7:66092961-66094235	K562	blood:	n/a	n/a
2	POLR2A	chr7:66092857-66094202	U87	brain:	n/a	n/a
3	POLR2A	chr7:66092987-66093815	HUVEC	blood vessel:	n/a	n/a
4	HNF4A	chr7:66093025-66093272	HepG2	liver:	n/a	chr7:66093159-66093174 chr7:66093159-66093174 chr7:66093167-66093174 chr7:66093159-66093174 chr7:66093161-66093173 chr7:66093161-66093173 chr7:66093160-66093172
5	MAFK	chr7:66092983-66094145	Hela-S3	cervix:	n/a	n/a
6	NRF1	chr7:66092839-66094276	SK-N-SH	brain:	n/a	chr7:66093910-66093921 chr7:66093912-66093921 chr7:66093910-66093924
7	CTCF	chr7:66092960-66093110	HCPEpiC	choroid plexus:	n/a	n/a
8	POLR2A	chr7:66092856-66094480	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr7:66092656-66094245	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:66092856-66094199	PFSK-1	brain:	n/a	n/a
11	TAF1	chr7:66093031-66094259	ECC-1	luminal epithelium:	n/a	n/a
12	SP1	chr7:66092964-66094122	A549	lung:	n/a	chr7:66093412-66093421 chr7:66093411-66093420 chr7:66093412-66093421 chr7:66093410-66093422 chr7:66093407-66093421 chr7:66093410-66093422
13	YY1	chr7:66092973-66094199	SK-N-SH_RA	brain:	n/a	chr7:66093766-66093780 chr7:66093408-66093422 chr7:66093671-66093685 chr7:66093414-66093428 chr7:66093759-66093773
14	POLR2A	chr7:66092869-66094355	HUVEC	blood vessel:	n/a	n/a
15	SP1	chr7:66093034-66094126	H1-hESC	embryonic stem cell:	n/a	chr7:66093412-66093421 chr7:66093411-66093420 chr7:66093412-66093421 chr7:66093410-66093422 chr7:66093407-66093421 chr7:66093410-66093422
16	POLR2A	chr7:66092962-66094215	GM12878	blood:	n/a	n/a
17	RUNX3	chr7:66092929-66094197	GM12878	blood:	n/a	n/a
18	FOS	chr7:66093017-66093166	MCF10A-Er-Src	breast:	n/a	n/a
19	MXI1	chr7:66092989-66094156	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:66092920-66093768	U87	brain:	n/a	n/a
21	POLR2A	chr7:66092997-66093700	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:66092855-66094221	SK-N-MC	brain:	n/a	n/a
23	JUN	chr7:66092898-66094951	K562	blood:	n/a	chr7:66093806-66093815
24	CREB1	chr7:66092792-66094277	HepG2	liver:	n/a	n/a
25	SP1	chr7:66092960-66094133	A549	lung:	n/a	chr7:66093412-66093421 chr7:66093411-66093420 chr7:66093412-66093421 chr7:66093410-66093422 chr7:66093407-66093421 chr7:66093410-66093422
26	CEBPB	chr7:66092935-66093611	HepG2	liver:	n/a	chr7:66093078-66093089
27	CEBPB	chr7:66092932-66094172	Hela-S3	cervix:	n/a	chr7:66093078-66093089
28	YY1	chr7:66092914-66094334	HepG2	liver:	n/a	chr7:66093766-66093780 chr7:66093408-66093422 chr7:66093671-66093685 chr7:66093414-66093428 chr7:66093759-66093773
29	CTCF	chr7:66093020-66093170	AG09309	skin:	n/a	n/a
30	CEBPB	chr7:66092922-66093142	HepG2	liver:	n/a	chr7:66093078-66093089
31	PAX5	chr7:66092917-66093996	GM12878	blood:	n/a	chr7:66093673-66093682
32	RUNX3	chr7:66092831-66094203	GM12878	blood:	n/a	n/a
33	MTA3	chr7:66092842-66093760	GM12878	blood:	n/a	n/a
34	CEBPD	chr7:66092971-66094129	HepG2	liver:	n/a	n/a
35	HNF4A	chr7:66092922-66093269	HepG2	liver:	n/a	chr7:66093159-66093174 chr7:66093159-66093174 chr7:66093167-66093174 chr7:66093159-66093174 chr7:66093161-66093173 chr7:66093161-66093173 chr7:66093160-66093172
36	TAF1	chr7:66092929-66093814	A549	lung:	n/a	n/a
37	TEAD4	chr7:66092957-66094126	K562	blood:	n/a	n/a
38	TCF12	chr7:66093027-66094231	ECC-1	luminal epithelium:	n/a	chr7:66093965-66093973
39	POLR2A	chr7:66092901-66093768	U87	brain:	n/a	n/a
40	EP300	chr7:66091491-66096076	SK-N-SH	brain:	n/a	chr7:66093761-66093770 chr7:66094701-66094715 chr7:66093402-66093418 chr7:66094696-66094710 chr7:66093421-66093437
41	CEBPB	chr7:66092863-66093318	MCF-7	breast:	n/a	chr7:66093078-66093089
42	FOXM1	chr7:66093016-66093674	GM12878	blood:	n/a	n/a
43	SIN3AK20	chr7:66092778-66094406	MCF-7	breast:	n/a	n/a
44	POLR2A	chr7:66092927-66093744	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr7:66092856-66094285	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr7:66092948-66094188	HepG2	liver:	n/a	n/a
47	NFYA	chr7:66092983-66094143	Hela-S3	cervix:	n/a	chr7:66093689-66093704 chr7:66093802-66093820 chr7:66093802-66093815 chr7:66093691-66093701
48	SMARCB1	chr7:66092985-66094231	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr7:66092885-66093255	K562	blood:	n/a	chr7:66093078-66093089
50	HMGN3	chr7:66092936-66094241	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66054686..66058308-chr7:66092199..66095155,8	MCF-7	breast:
2	chr7:66065925..66067738-chr7:66091765..66093864,2	MCF-7	breast:
3	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:
4	chr7:66091926..66093448-chr7:66145464..66148372,2	K562	blood:
5	chr7:66081713..66084655-chr7:66091720..66093835,2	K562	blood:
6	chr7:66092683..66094985-chr7:66385486..66387762,2	K562	blood:
7	chr19:47616108..47616738-chr7:66092987..66093789,2	NB4	blood:
8	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
9	chr7:66091921..66093533-chr7:66126836..66128952,2	K562	blood:
10	chr18:60188960..60191290-chr7:66092438..66094861,2	MCF-7	breast:
11	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:

Variant related genes	Relation type
KCTD7	TF binding region
ENSG00000232559	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000141664	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000142230	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv3430888	chr7:66092917-66095465	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
6	esv3327134	chr7:66092942-66095490	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	31 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	chr7:66092000-66094400	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr7:66092200-66093200	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr7:66092200-66094600	Active TSS	Brain Anterior Caudate	brain
4	chr7:66092200-66094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:66092400-66093200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr7:66092400-66093200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:66092400-66094400	Active TSS	Primary T cells from cord blood	blood
8	chr7:66092400-66094800	Active TSS	Brain Angular Gyrus	brain
9	chr7:66092400-66094800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:66092400-66094800	Active TSS	Rectal Smooth Muscle	rectum
11	chr7:66092400-66095000	Active TSS	A549	lung
12	chr7:66092400-66095200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:66092600-66093200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr7:66092600-66093200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr7:66092600-66093200	Active TSS	HepG2	liver
16	chr7:66092600-66094400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr7:66092600-66094600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:66092600-66094600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr7:66092600-66094800	Active TSS	Placenta Amnion	Placenta Amnion
20	chr7:66092600-66095000	Active TSS	Colonic Mucosa	Colon
21	chr7:66092800-66093200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:66092800-66093200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:66092800-66093200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:66092800-66093200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr7:66092800-66093200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:66092800-66093200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:66092800-66093200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr7:66092800-66093200	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr7:66092800-66093200	Active TSS	Brain Germinal Matrix	brain
30	chr7:66092800-66093200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr7:66092800-66093200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr7:66092800-66093200	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr7:66092800-66093200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr7:66092800-66093200	Flanking Active TSS	Fetal Stomach	stomach
35	chr7:66092800-66093200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
36	chr7:66092800-66093200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:66092800-66093200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr7:66092800-66093200	Flanking Active TSS	GM12878-XiMat	blood
39	chr7:66092800-66093200	Flanking Active TSS	Osteobl	bone
40	chr7:66092800-66093400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr7:66092800-66093400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr7:66092800-66093400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr7:66092800-66093400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:66092800-66093400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:66092800-66093400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:66092800-66093400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:66092800-66093400	Flanking Active TSS	Placenta	Placenta
48	chr7:66092800-66093400	Active TSS	Right Atrium	heart
49	chr7:66092800-66093400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr7:66092800-66093400	Flanking Active TSS	Dnd41	blood

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