Variant report

Variant	rs567043699
Chromosome Location	chr7:65338242-65338243
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	POLR2A	chr7:65337979-65338544	PFSK-1	brain:	n/a	n/a
2	YY1	chr7:65337997-65338640	K562	blood:	n/a	chr7:65338186-65338195
3	TBP	chr7:65338058-65338467	K562	blood:	n/a	n/a
4	TAF1	chr7:65338240-65338623	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:65338008-65338679	GM12878	blood:	n/a	n/a
6	MAX	chr7:65337864-65338625	SK-N-SH	brain:	n/a	chr7:65338184-65338194 chr7:65338106-65338116
7	PAX5	chr7:65337990-65338453	GM12892	blood:	n/a	chr7:65338120-65338129 chr7:65338118-65338127
8	POLR2A	chr7:65337966-65338622	H1-neurons	neurons:	n/a	n/a
9	MAX	chr7:65337842-65338618	HepG2	liver:	n/a	chr7:65338184-65338194 chr7:65338106-65338116
10	MAX	chr7:65337711-65338650	NB4	blood:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
11	YY1	chr7:65337936-65338674	GM12892	blood:	n/a	chr7:65338186-65338195
12	MAX	chr7:65337807-65338664	MCF-7	breast:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
13	POLR2A	chr7:65338005-65338698	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:65338008-65338568	A549	lung:	n/a	n/a
15	SRF	chr7:65338003-65338306	K562	blood:	n/a	chr7:65338184-65338194
16	HMGN3	chr7:65338032-65338560	K562	blood:	n/a	n/a
17	POLR2A	chr7:65337722-65338593	GM15510	blood:	n/a	n/a
18	POLR2A	chr7:65338119-65338631	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:65337752-65338547	GM19099	blood:	n/a	n/a
20	YY1	chr7:65337969-65338669	K562	blood:	n/a	chr7:65338186-65338195
21	MAX	chr7:65337964-65338641	H1-hESC	embryonic stem cell:	n/a	chr7:65338184-65338194 chr7:65338106-65338116
22	CREB1	chr7:65337864-65338263	A549	lung:	n/a	n/a
23	YY1	chr7:65338241-65338560	SK-N-SH_RA	brain:	n/a	n/a
24	MAX	chr7:65337823-65338611	SK-N-SH	brain:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
25	EP300	chr7:65338054-65338614	ECC-1	luminal epithelium:	n/a	chr7:65338066-65338082 chr7:65338116-65338125
26	POLR2A	chr7:65338012-65338667	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr7:65338091-65339181	GM12892	blood:	n/a	n/a
28	POLR2A	chr7:65338042-65339320	HepG2	liver:	n/a	n/a
29	MAX	chr7:65338220-65338650	ECC-1	luminal epithelium:	n/a	n/a
30	MXI1	chr7:65337655-65339482	IMR90	lung:	n/a	n/a
31	POLR2A	chr7:65337815-65339065	MCF-7	breast:	n/a	n/a
32	EGR1	chr7:65338003-65338254	GM12878	blood:	n/a	chr7:65338101-65338116 chr7:65338118-65338127 chr7:65338186-65338196 chr7:65338181-65338194 chr7:65338182-65338196 chr7:65338184-65338194 chr7:65338004-65338014
33	TAF1	chr7:65337735-65338658	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr7:65338033-65338558	HepG2	liver:	n/a	chr7:65338184-65338194 chr7:65338106-65338116
35	YY1	chr7:65338151-65338513	ECC-1	luminal epithelium:	n/a	chr7:65338186-65338195
36	POLR2A	chr7:65338014-65338537	A549	lung:	n/a	n/a
37	POLR2A	chr7:65338029-65338578	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr7:65337746-65338604	NB4	blood:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
39	MXI1	chr7:65337260-65339476	SK-N-SH	brain:	n/a	n/a
40	CEBPD	chr7:65337963-65338299	HepG2	liver:	n/a	n/a
41	YY1	chr7:65338013-65338644	GM12891	blood:	n/a	chr7:65338186-65338195
42	E2F6	chr7:65337971-65338292	K562	blood:	n/a	chr7:65338132-65338144 chr7:65338186-65338195 chr7:65338116-65338125
43	POLR2A	chr7:65338157-65339058	K562	blood:	n/a	n/a
44	MAX	chr7:65337839-65338640	HepG2	liver:	n/a	chr7:65338184-65338194 chr7:65338106-65338116
45	TAF1	chr7:65338235-65338606	HepG2	liver:	n/a	n/a
46	MAZ	chr7:65337703-65338300	GM12878	blood:	n/a	chr7:65338184-65338194 chr7:65338106-65338116 chr7:65337831-65337841
47	NFYB	chr7:65338078-65338262	GM12878	blood:	n/a	n/a
48	YY1	chr7:65337834-65338701	HepG2	liver:	n/a	chr7:65338186-65338195
49	POLR2A	chr7:65338213-65338548	HepG2	liver:	n/a	n/a
50	MXI1	chr7:65337773-65338551	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:64498559..64499288-chr7:65338067..65339051,2	NB4	blood:
2	chr7:65214366..65217502-chr7:65337041..65339664,3	MCF-7	breast:
3	chr7:65337864..65339398-chr7:65445758..65448693,2	K562	blood:
4	chr7:64498619..64500351-chr7:65337220..65338727,3	MCF-7	breast:

Variant related genes	Relation type
VKORC1L1	TF binding region
ENSG00000228409	Chromatin interaction
ENSG00000234585	Chromatin interaction
ENSG00000239985	Chromatin interaction
ENSG00000169919	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65334600-65338400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:65336000-65338400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:65337400-65339200	Active TSS	Hela-S3	cervix
4	chr7:65337400-65339600	Active TSS	A549	lung
5	chr7:65337600-65339000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr7:65337600-65339000	Active TSS	Fetal Brain Female	brain
7	chr7:65337600-65339000	Active TSS	HepG2	liver
8	chr7:65337600-65339200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:65337600-65339200	Active TSS	K562	blood
10	chr7:65337600-65339400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:65337600-65339400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:65337600-65339400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:65337600-65339400	Active TSS	Fetal Thymus	thymus
14	chr7:65337600-65339400	Active TSS	Ovary	ovary
15	chr7:65337600-65339400	Active TSS	Thymus	Thymus
16	chr7:65337600-65339600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:65337600-65339600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:65337600-65339600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:65337600-65339600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:65337600-65339600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:65337600-65339600	Active TSS	Brain Angular Gyrus	brain
22	chr7:65337600-65339600	Active TSS	Brain Anterior Caudate	brain
23	chr7:65337600-65339600	Active TSS	Brain Cingulate Gyrus	brain
24	chr7:65337600-65339600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:65337600-65339600	Active TSS	HMEC	breast
26	chr7:65337600-65340000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr7:65337600-65340000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:65337800-65338400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:65337800-65338400	Weak transcription	Placenta	Placenta
30	chr7:65337800-65338400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:65337800-65338400	Weak transcription	GM12878-XiMat	blood
32	chr7:65337800-65338400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:65337800-65338400	Weak transcription	NHDF-Ad	bronchial
34	chr7:65337800-65338400	Weak transcription	NHEK	skin
35	chr7:65337800-65338800	Active TSS	Adipose Nuclei	Adipose
36	chr7:65337800-65339200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:65337800-65339200	Active TSS	Brain Substantia Nigra	brain
38	chr7:65337800-65339400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr7:65337800-65339600	Active TSS	Brain Germinal Matrix	brain
40	chr7:65338000-65338400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:65338000-65338400	Weak transcription	Liver	Liver
42	chr7:65338000-65338800	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr7:65338000-65339000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr7:65338000-65339000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:65338000-65339200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:65338000-65339200	Active TSS	Dnd41	blood
47	chr7:65338000-65339400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:65338000-65339400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:65338000-65339400	Active TSS	Psoas Muscle	Psoas
50	chr7:65338000-65339600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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