Variant report

Variant	rs564974062
Chromosome Location	chr7:65337853-65337854
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	RCOR1	chr7:65337732-65338155	Hela-S3	cervix:	n/a	n/a
2	TEAD4	chr7:65337653-65337980	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr7:65337741-65337910	Hela-S3	cervix:	n/a	n/a
4	MAX	chr7:65337842-65338618	HepG2	liver:	n/a	chr7:65338184-65338194 chr7:65338106-65338116
5	MAX	chr7:65337711-65338650	NB4	blood:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
6	MAX	chr7:65337807-65338664	MCF-7	breast:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
7	SP1	chr7:65337688-65337968	GM12878	blood:	n/a	chr7:65337830-65337842 chr7:65337830-65337842 chr7:65337827-65337841
8	POLR2A	chr7:65337842-65337942	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:65337800-65337870	A549	lung:	n/a	n/a
10	EBF1	chr7:65337651-65337926	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:65337682-65337919	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:65337722-65338593	GM15510	blood:	n/a	n/a
13	POLR2A	chr7:65337752-65338547	GM19099	blood:	n/a	n/a
14	MAX	chr7:65337823-65338611	SK-N-SH	brain:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
15	FOS	chr7:65337703-65337867	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr7:65337655-65339482	IMR90	lung:	n/a	n/a
17	POLR2A	chr7:65337815-65339065	MCF-7	breast:	n/a	n/a
18	TEAD4	chr7:65337662-65338036	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr7:65337735-65338658	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr7:65337662-65337967	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF143	chr7:65337753-65338204	GM12878	blood:	n/a	n/a
22	MYC	chr7:65337746-65338604	NB4	blood:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
23	MXI1	chr7:65337260-65339476	SK-N-SH	brain:	n/a	n/a
24	MAX	chr7:65337839-65338640	HepG2	liver:	n/a	chr7:65338184-65338194 chr7:65338106-65338116
25	MAZ	chr7:65337703-65338300	GM12878	blood:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
26	YY1	chr7:65337834-65338701	HepG2	liver:	n/a	chr7:65338186-65338195
27	MXI1	chr7:65337773-65338551	HepG2	liver:	n/a	n/a
28	MAX	chr7:65337757-65338563	K562	blood:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
29	CEBPB	chr7:65337762-65338153	IMR90	lung:	n/a	n/a
30	FOS	chr7:65337712-65337888	MCF10A-Er-Src	breast:	n/a	n/a
31	JUND	chr7:65337756-65337922	HepG2	liver:	n/a	n/a
32	MAZ	chr7:65337739-65339040	K562	blood:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
33	EGR1	chr7:65337843-65338454	HCT-116	colon:	n/a	chr7:65338101-65338116 chr7:65338118-65338127 chr7:65338186-65338196 chr7:65338181-65338194 chr7:65338182-65338196 chr7:65338184-65338194 chr7:65338004-65338014
34	IRF1	chr7:65337741-65338248	K562	blood:	n/a	chr7:65338185-65338199 chr7:65338131-65338145
35	POLR2A	chr7:65337712-65338582	Raji	blood:	n/a	n/a
36	POLR2A	chr7:65337785-65337883	A549	lung:	n/a	n/a
37	MAX	chr7:65337726-65338660	K562	blood:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
38	E2F4	chr7:65337764-65338276	MCF10A-Er-Src	breast:	n/a	chr7:65338132-65338144 chr7:65338186-65338195 chr7:65338116-65338125
39	MAX	chr7:65337818-65338624	A549	lung:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
40	SRF	chr7:65337786-65338433	HCT-116	colon:	n/a	chr7:65338184-65338194
41	TEAD4	chr7:65337646-65338129	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr7:65337827-65338529	HepG2	liver:	n/a	n/a
43	TAF1	chr7:65337710-65339140	HepG2	liver:	n/a	n/a
44	MAZ	chr7:65337648-65339219	IMR90	lung:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
45	POLR2A	chr7:65337785-65339012	NB4	blood:	n/a	n/a
46	TBP	chr7:65337759-65338181	H1-hESC	embryonic stem cell:	n/a	n/a
47	CCNT2	chr7:65337783-65338592	K562	blood:	n/a	chr7:65338186-65338195
48	POLR2A	chr7:65337742-65337901	H1-hESC	embryonic stem cell:	n/a	n/a
49	TEAD4	chr7:65337519-65337965	HepG2	liver:	n/a	n/a
50	MAX	chr7:65337702-65338600	Hela-S3	cervix:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65214366..65217502-chr7:65337041..65339664,3	MCF-7	breast:
2	chr7:64498619..64500351-chr7:65337220..65338727,3	MCF-7	breast:

Variant related genes	Relation type
VKORC1L1	TF binding region
ENSG00000228409	Chromatin interaction
ENSG00000239985	Chromatin interaction
ENSG00000234585	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv3339156	chr7:64510176-65349050	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv2764020	chr7:64594065-65351820	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv1029942	chr7:64679680-65371565	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv538903	chr7:64679680-65371565	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1019667	chr7:64679680-65380603	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	esv2757227	chr7:64694241-65373851	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv1025207	chr7:65092426-65339879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1033400	chr7:65092426-65339879	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv1020622	chr7:65161364-65339879	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	esv1815526	chr7:65286678-65338375	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1029800	chr7:65309327-65367692	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv3427026	chr7:65336942-65339890	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv3414148	chr7:65337017-65339740	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65330800-65338200	Weak transcription	Right Atrium	heart
2	chr7:65334600-65338400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:65334800-65338200	Weak transcription	NHLF	lung
4	chr7:65335800-65338000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:65335800-65338000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:65336000-65338400	Weak transcription	Primary B cells from cord blood	blood
7	chr7:65336200-65338000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:65336600-65338000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:65336600-65338200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:65336800-65338200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:65337400-65338000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:65337400-65338000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:65337400-65338000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:65337400-65338000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:65337400-65338000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:65337400-65338000	Enhancers	Fetal Muscle Leg	muscle
17	chr7:65337400-65338000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:65337400-65338200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:65337400-65339200	Active TSS	Hela-S3	cervix
20	chr7:65337400-65339600	Active TSS	A549	lung
21	chr7:65337600-65338000	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:65337600-65338000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr7:65337600-65338000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:65337600-65338000	Enhancers	Right Ventricle	heart
25	chr7:65337600-65338000	Enhancers	Stomach Smooth Muscle	stomach
26	chr7:65337600-65338000	Flanking Active TSS	Dnd41	blood
27	chr7:65337600-65338000	Enhancers	HSMM	muscle
28	chr7:65337600-65338000	Enhancers	NH-A	brain
29	chr7:65337600-65338000	Enhancers	Osteobl	bone
30	chr7:65337600-65339000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr7:65337600-65339000	Active TSS	Fetal Brain Female	brain
32	chr7:65337600-65339000	Active TSS	HepG2	liver
33	chr7:65337600-65339200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:65337600-65339200	Active TSS	K562	blood
35	chr7:65337600-65339400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:65337600-65339400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:65337600-65339400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr7:65337600-65339400	Active TSS	Fetal Thymus	thymus
39	chr7:65337600-65339400	Active TSS	Ovary	ovary
40	chr7:65337600-65339400	Active TSS	Thymus	Thymus
41	chr7:65337600-65339600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr7:65337600-65339600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:65337600-65339600	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:65337600-65339600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr7:65337600-65339600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:65337600-65339600	Active TSS	Brain Angular Gyrus	brain
47	chr7:65337600-65339600	Active TSS	Brain Anterior Caudate	brain
48	chr7:65337600-65339600	Active TSS	Brain Cingulate Gyrus	brain
49	chr7:65337600-65339600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:65337600-65339600	Active TSS	HMEC	breast

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