Variant report

Variant	rs369508561
Chromosome Location	chr7:66093365-66093366
allele	A/C
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	TBP	chr7:66093151-66094128	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:66093119-66094195	HCT-116	colon:	n/a	n/a
3	POLR2A	chr7:66092961-66094235	K562	blood:	n/a	n/a
4	UBTF	chr7:66093184-66093656	K562	blood:	n/a	n/a
5	ZNF143	chr7:66093333-66093697	H1-hESC	embryonic stem cell:	n/a	chr7:66093391-66093401 chr7:66093649-66093659
6	POLR2A	chr7:66092857-66094202	U87	brain:	n/a	n/a
7	POLR2A	chr7:66093084-66094207	GM12892	blood:	n/a	n/a
8	E2F1	chr7:66093300-66094282	Hela-S3	cervix:	n/a	chr7:66093415-66093425 chr7:66093667-66093681 chr7:66093870-66093881 chr7:66093906-66093917
9	POLR2A	chr7:66093160-66093718	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:66092987-66093815	HUVEC	blood vessel:	n/a	n/a
11	HEY1	chr7:66093285-66093703	K562	blood:	n/a	n/a
12	PAX5	chr7:66093249-66094165	GM12878	blood:	n/a	chr7:66093673-66093682
13	POLR2A	chr7:66093179-66094364	Gliobla	brain:	n/a	n/a
14	ELF1	chr7:66093297-66093691	A549	lung:	n/a	n/a
15	MAZ	chr7:66093056-66094623	K562	blood:	n/a	chr7:66094507-66094517
16	POLR2A	chr7:66093160-66094267	NB4	blood:	n/a	n/a
17	HA-E2F1	chr7:66093037-66094180	MCF-7	breast:	n/a	chr7:66093415-66093425 chr7:66093667-66093681 chr7:66093870-66093881 chr7:66093906-66093917
18	MAFK	chr7:66092983-66094145	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:66093095-66094586	H1-neurons	neurons:	n/a	n/a
20	TAF1	chr7:66093261-66093739	Hela-S3	cervix:	n/a	n/a
21	YY1	chr7:66093144-66094213	GM12892	blood:	n/a	chr7:66093766-66093780 chr7:66093408-66093422 chr7:66093671-66093685 chr7:66093414-66093428 chr7:66093759-66093773
22	YY1	chr7:66093316-66093724	K562	blood:	n/a	chr7:66093408-66093422 chr7:66093671-66093685 chr7:66093414-66093428
23	KAP1	chr7:66093054-66093645	U2OS	brain:	n/a	n/a
24	NRF1	chr7:66092839-66094276	SK-N-SH	brain:	n/a	chr7:66093910-66093921 chr7:66093912-66093921 chr7:66093910-66093924
25	PML	chr7:66093220-66093817	K562	blood:	n/a	n/a
26	POLR2A	chr7:66092856-66094480	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr7:66092656-66094245	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr7:66093108-66094280	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr7:66092856-66094199	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr7:66093193-66094373	MCF-7	breast:	n/a	n/a
31	TAF1	chr7:66093031-66094259	ECC-1	luminal epithelium:	n/a	n/a
32	SMC3	chr7:66093205-66093654	HepG2	liver:	n/a	n/a
33	NFYB	chr7:66093153-66094191	GM12878	blood:	n/a	chr7:66093689-66093704 chr7:66093799-66093814 chr7:66093802-66093815 chr7:66093691-66093701
34	SP1	chr7:66093328-66094077	HepG2	liver:	n/a	chr7:66093412-66093421 chr7:66093411-66093420 chr7:66093412-66093421 chr7:66093410-66093422 chr7:66093407-66093421 chr7:66093410-66093422
35	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
36	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
37	POLR2A	chr7:66093067-66094311	MCF-7	breast:	n/a	n/a
38	POLR2A	chr7:66092869-66094355	HUVEC	blood vessel:	n/a	n/a
39	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
40	TCF7L2	chr7:66093184-66093559	Hela-S3	cervix:	n/a	n/a
41	RELA	chr7:66093286-66094118	GM19099	blood:	n/a	n/a
42	POLR2A	chr7:66092962-66094215	GM12878	blood:	n/a	n/a
43	ELF1	chr7:66093324-66094218	K562	blood:	n/a	chr7:66093908-66093920 chr7:66093761-66093773
44	E2F6	chr7:66093298-66094241	K562	blood:	n/a	chr7:66093415-66093425 chr7:66093667-66093681
45	NFIC	chr7:66093361-66093689	HepG2	liver:	n/a	n/a
46	ZC3H11A	chr7:66093200-66093643	K562	blood:	n/a	n/a
47	RELA	chr7:66093137-66094044	GM10847	blood:	n/a	n/a
48	RUNX3	chr7:66092929-66094197	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:66093323-66094067	GM12892	blood:	n/a	n/a
50	POLR2A	chr7:66093118-66094244	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:66093349-66093399	PFSK-1	brain:	n/a
2	chr7:66093349-66093399	NH-A	brain:	n/a
3	chr7:66093349-66093399	NB4	blood:	n/a
4	chr7:66093349-66093399	GM19239	blood:	n/a
5	chr7:66093349-66093399	CMK	blood:	n/a
6	chr7:66093349-66093399	HMEC	breast:	n/a
7	chr7:66093349-66093399	H1-hESC	embryonic stem cell:	embryo
8	chr7:66093349-66093399	U87	brain:	n/a
9	chr7:66093349-66093399	HRCEpiC	kidney:	n/a
10	chr7:66093349-66093399	NHBE	bronchial:	n/a
11	chr7:66093349-66093399	HRPEpiC	eye:	n/a
12	chr7:66093349-66093399	HCPEpiC	choroid plexus:	n/a
13	chr7:66093349-66093399	HNPCEpiC	eye:	n/a
14	chr7:66093349-66093399	NHDF-neo	bronchial:	n/a
15	chr7:66093349-66093399	SAEC	small airway:	n/a
16	chr7:66093349-66093399	Hela-S3	cervix:	n/a
17	chr7:66093349-66093399	GM12878	blood:	n/a
18	chr7:66093349-66093399	PANC-1	pancreas:	n/a
19	chr7:66093349-66093399	MCF10A-Er-Src	breast:	n/a
20	chr7:66093349-66093399	NT2-D1	testis:	n/a
21	chr7:66093349-66093399	GM12892	blood:	n/a
22	chr7:66093349-66093399	HEEpiC	esophagus:	n/a
23	chr7:66093349-66093399	PrEC	prostate:	n/a
24	chr7:66093349-66093399	HUVEC	blood vessel:	n/a
25	chr7:66093349-66093399	SK-N-SH_RA	brain:	n/a
26	chr7:66093349-66093399	HepG2	liver:	n/a
27	chr7:66093349-66093399	GM06990	blood:	n/a
28	chr7:66093349-66093399	HCM	heart:	n/a
29	chr7:66093349-66093399	AG09319	gingival:	n/a
30	chr7:66093349-66093399	AG04450	lung:	fetal
31	chr7:66093349-66093399	AG04449	skin:	fetal
32	chr7:66093349-66093399	HPAEpiC	pulmonary alveolar:	n/a
33	chr7:66093349-66093399	MCF-7	breast:	n/a
34	chr7:66093349-66093399	AG09309	skin:	n/a
35	chr7:66093349-66093399	SKMC	muscle:	n/a
36	chr7:66093349-66093399	HRE	kidney:	n/a
37	chr7:66093349-66093399	IMR90	lung:	fetal
38	chr7:66093349-66093399	HCF	heart:	n/a
39	chr7:66093349-66093399	HCT-116	colon:	n/a
40	chr7:66093349-66093399	A549	lung:	n/a
41	chr7:66093349-66093399	ovcar-3	ovarian:	n/a
42	chr7:66093349-66093399	BE2_C	brain:	n/a
43	chr7:66093349-66093399	ECC-1	luminal epithelium:	n/a
44	chr7:66093349-66093399	RPTEC	kidney:	n/a
45	chr7:66093349-66093399	Hepatocyte	liver:	n/a
46	chr7:66093349-66093399	HAEpiC	amniotic membrane:	n/a
47	chr7:66093349-66093399	AoSMC	blood vessel:	n/a
48	chr7:66093349-66093399	ProgFib	skin:	n/a
49	chr7:66093349-66093399	T-47D	breast:	n/a
50	chr7:66093349-66093399	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66054686..66058308-chr7:66092199..66095155,8	MCF-7	breast:
2	chr1:43919012..43919811-chr7:66093163..66093904,2	Hela-S3	cervix:
3	chr7:66093320..66093904-chr9:131313973..131314935,2	Hela-S3	cervix:
4	chr11:9596810..9597767-chr7:66093222..66093730,2	Hela-S3	cervix:
5	chr7:66065925..66067738-chr7:66091765..66093864,2	MCF-7	breast:
6	chr1:42800634..42801468-chr7:66093139..66093799,2	NB4	blood:
7	chr1:28836038..28837012-chr7:66093346..66093861,2	HCT-116	colon:
8	chr1:27114382..27114969-chr7:66093178..66093696,2	Hela-S3	cervix:
9	chr11:17098718..17099589-chr7:66093255..66093859,2	Hela-S3	cervix:
10	chr17:39845061..39845590-chr7:66093188..66093726,2	Hela-S3	cervix:
11	chr5:98264226..98265182-chr7:66093354..66094059,2	Hela-S3	cervix:
12	chr16:30366233..30367218-chr7:66093220..66094003,2	Hela-S3	cervix:
13	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:
14	chr7:66091926..66093448-chr7:66145464..66148372,2	K562	blood:
15	chr7:66081713..66084655-chr7:66091720..66093835,2	K562	blood:
16	chr7:66092683..66094985-chr7:66385486..66387762,2	K562	blood:
17	chr12:51662640..51663547-chr7:66093284..66093823,2	Hela-S3	cervix:
18	chr19:47616108..47616738-chr7:66092987..66093789,2	NB4	blood:
19	chr7:66093040..66094130-chr9:130213730..130214325,3	Hela-S3	cervix:
20	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
21	chr5:43066820..43067773-chr7:66093320..66094153,2	Hela-S3	cervix:
22	chr7:66093225..66093866-chrX:48595454..48596366,2	Hela-S3	cervix:
23	chr7:66091921..66093533-chr7:66126836..66128952,2	K562	blood:
24	chr18:60188960..60191290-chr7:66092438..66094861,2	MCF-7	breast:
25	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:

Variant related genes	Relation type
KCTD7	TF binding region
KCTD7	CpG island
ENSG00000110700	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000232559	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000229348	Chromatin interaction
ENSG00000248489	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000141664	Chromatin interaction
ENSG00000232828	Chromatin interaction
ENSG00000142230	Chromatin interaction
ENSG00000198815	Chromatin interaction
ENSG00000060642	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000197694	Chromatin interaction
ENSG00000178922	Chromatin interaction
ENSG00000228395	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000226824	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:127 , 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	chr7:66092200-66094600	Active TSS	Brain Anterior Caudate	brain
3	chr7:66092200-66094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:66092400-66094400	Active TSS	Primary T cells from cord blood	blood
5	chr7:66092400-66094800	Active TSS	Brain Angular Gyrus	brain
6	chr7:66092400-66094800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:66092400-66094800	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:66092400-66095000	Active TSS	A549	lung
9	chr7:66092400-66095200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:66092600-66094400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:66092600-66094600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:66092600-66094600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:66092600-66094800	Active TSS	Placenta Amnion	Placenta Amnion
14	chr7:66092600-66095000	Active TSS	Colonic Mucosa	Colon
15	chr7:66092800-66093400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr7:66092800-66093400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:66092800-66093400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:66092800-66093400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:66092800-66093400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:66092800-66093400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:66092800-66093400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:66092800-66093400	Flanking Active TSS	Placenta	Placenta
23	chr7:66092800-66093400	Active TSS	Right Atrium	heart
24	chr7:66092800-66093400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:66092800-66093400	Flanking Active TSS	Dnd41	blood
26	chr7:66092800-66093400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:66092800-66093600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr7:66092800-66093600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr7:66092800-66093600	Flanking Active TSS	Liver	Liver
30	chr7:66092800-66093600	Active TSS	Stomach Mucosa	stomach
31	chr7:66092800-66094400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:66092800-66094400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr7:66092800-66094400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:66092800-66094400	Active TSS	Ovary	ovary
35	chr7:66092800-66094400	Active TSS	Thymus	Thymus
36	chr7:66092800-66094400	Active TSS	Spleen	Spleen
37	chr7:66092800-66094600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:66092800-66094600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:66092800-66094600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr7:66092800-66094600	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr7:66092800-66094600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr7:66092800-66094600	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr7:66092800-66094600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:66092800-66094600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:66092800-66094600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:66092800-66094600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:66092800-66094600	Active TSS	Brain Substantia Nigra	brain
48	chr7:66092800-66094600	Active TSS	Fetal Brain Female	brain
49	chr7:66092800-66094600	Active TSS	Fetal Kidney	kidney
50	chr7:66092800-66094600	Active TSS	Right Ventricle	heart

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