Variant report

Variant	rs574054729
Chromosome Location	chr7:64541880-64541881
allele	A/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	chr7:64541253-64541966	GM15510	blood:	n/a	n/a
2	MAZ	chr7:64541622-64541926	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:64541262-64542212	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:64541291-64542082	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:64541312-64541926	HCT-116	colon:	n/a	n/a
6	POLR2A	chr7:64541233-64542121	ProgFib	skin:	n/a	n/a
7	CTCF	chr7:64541880-64542030	HMF	breast:	n/a	n/a
8	CTCF	chr7:64541800-64541950	HEEpiC	esophagus:	n/a	n/a
9	TAF1	chr7:64541486-64542071	GM12878	blood:	n/a	n/a
10	SP1	chr7:64541427-64542032	A549	lung:	n/a	chr7:64541683-64541695 chr7:64541685-64541694 chr7:64541657-64541678 chr7:64541683-64541695
11	SP1	chr7:64541470-64541995	A549	lung:	n/a	chr7:64541683-64541695 chr7:64541685-64541694 chr7:64541657-64541678 chr7:64541683-64541695
12	PAX5	chr7:64541371-64542154	GM12878	blood:	n/a	chr7:64541826-64541835
13	TBL1XR1	chr7:64541587-64541924	K562	blood:	n/a	n/a
14	POLR2A	chr7:64541375-64542097	K562	blood:	n/a	n/a
15	POLR2A	chr7:64541217-64542281	MCF-7	breast:	n/a	n/a
16	POU2F2	chr7:64541713-64541937	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:64541288-64541967	NB4	blood:	n/a	n/a
18	SP1	chr7:64541460-64541973	GM12878	blood:	n/a	chr7:64541683-64541695 chr7:64541685-64541694 chr7:64541657-64541678 chr7:64541683-64541695
19	TAF1	chr7:64541398-64541986	GM12891	blood:	n/a	n/a
20	POLR2A	chr7:64541257-64542101	GM19099	blood:	n/a	n/a
21	CREB1	chr7:64541612-64541964	GM12878	blood:	n/a	n/a
22	NFIC	chr7:64541494-64542007	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr7:64541644-64541916	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:64541119-64542093	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:64541394-64541950	IMR90	lung:	n/a	n/a
26	CEBPB	chr7:64541804-64542117	K562	blood:	n/a	n/a
27	POLR2A	chr7:64541184-64541987	HepG2	liver:	n/a	n/a
28	YY1	chr7:64541594-64541971	A549	lung:	n/a	n/a
29	POLR2A	chr7:64541198-64542583	GM12878	blood:	n/a	n/a
30	EBF1	chr7:64541134-64541950	GM12878	blood:	n/a	n/a
31	TAF1	chr7:64541446-64541989	GM12892	blood:	n/a	n/a
32	SP1	chr7:64541460-64542027	K562	blood:	n/a	chr7:64541683-64541695 chr7:64541685-64541694 chr7:64541657-64541678 chr7:64541683-64541695
33	POLR2A	chr7:64541173-64542248	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:64541014-64542203	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr7:64541550-64541901	K562	blood:	n/a	n/a
36	POU2F2	chr7:64541673-64541900	GM12878	blood:	n/a	n/a
37	HEY1	chr7:64541377-64541941	HepG2	liver:	n/a	n/a
38	JUN	chr7:64541101-64541960	K562	blood:	n/a	chr7:64541666-64541675 chr7:64541718-64541731
39	POLR2A	chr7:64541727-64541951	K562	blood:	n/a	n/a
40	POLR2A	chr7:64541246-64542038	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr7:64541363-64542073	PBDE	blood:	n/a	n/a
42	PAX5	chr7:64541349-64541942	GM12878	blood:	n/a	chr7:64541826-64541835
43	POLR2A	chr7:64541156-64542389	MCF-7	breast:	n/a	n/a
44	TAF1	chr7:64541130-64541950	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:64541401-64541904	K562	blood:	n/a	n/a
46	TAF1	chr7:64541548-64542038	A549	lung:	n/a	n/a
47	MXI1	chr7:64541429-64541932	Hela-S3	cervix:	n/a	n/a
48	REST	chr7:64541474-64541968	SK-N-SH	brain:	n/a	chr7:64541771-64541781 chr7:64541764-64541782
49	POLR2A	chr7:64541193-64542091	PANC-1	pancreas:	n/a	n/a
50	PML	chr7:64541279-64542061	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:64541143..64541896-chr7:65235210..65235720,2	Hela-S3	cervix:
2	chr2:157191420..157192342-chr7:64541745..64542280,2	Hela-S3	cervix:
3	chr7:64541235..64542233-chr7:65235555..65236448,5	MCF-7	breast:
4	chr7:64541160..64542217-chr7:65235379..65236226,3	HCT-116	colon:
5	chr7:64540231..64542866-chr7:65234211..65237009,2	MCF-7	breast:
6	chr7:64499257..64501633-chr7:64540419..64543070,2	MCF-7	breast:
7	chr7:64541401..64541976-chr7:65235201..65235732,3	MCF-7	breast:
8	chr1:236958470..236959023-chr7:64541184..64541935,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000226002	TF binding region
ENSG00000116984	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
13	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
14	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv916005	chr7:64499811-65012082	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv533081	chr7:64499945-65208605	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	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
21	nsv888285	chr7:64511564-64662075	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv888286	chr7:64529883-64800432	Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	esv18831	chr7:64534085-64581674	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv888287	chr7:64537992-64990806	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	nsv966822	chr7:64541569-64585100	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64541000-64542000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:64541000-64542000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:64541000-64542000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:64541000-64542000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:64541000-64542000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:64541000-64542000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:64541000-64542000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:64541000-64542000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:64541000-64542000	Active TSS	Primary B cells from cord blood	blood
10	chr7:64541000-64542000	Active TSS	Primary hematopoietic stem cells	blood
11	chr7:64541000-64542000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:64541000-64542000	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr7:64541000-64542000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:64541000-64542000	Active TSS	Adipose Nuclei	Adipose
15	chr7:64541000-64542000	Active TSS	Fetal Intestine Large	intestine
16	chr7:64541000-64542000	Active TSS	Fetal Intestine Small	intestine
17	chr7:64541000-64542000	Active TSS	Fetal Lung	lung
18	chr7:64541000-64542000	Active TSS	Fetal Muscle Trunk	muscle
19	chr7:64541000-64542000	Active TSS	Fetal Thymus	thymus
20	chr7:64541000-64542000	Active TSS	Left Ventricle	heart
21	chr7:64541000-64542000	Active TSS	Lung	lung
22	chr7:64541000-64542000	Active TSS	Ovary	ovary
23	chr7:64541000-64542000	Active TSS	Placenta Amnion	Placenta Amnion
24	chr7:64541000-64542000	Active TSS	Psoas Muscle	Psoas
25	chr7:64541000-64542000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:64541000-64542000	Active TSS	Stomach Smooth Muscle	stomach
27	chr7:64541000-64542000	Active TSS	Thymus	Thymus
28	chr7:64541000-64542000	Active TSS	HUVEC	blood vessel
29	chr7:64541000-64542000	Active TSS	NHDF-Ad	bronchial
30	chr7:64541000-64542000	Active TSS	NHLF	lung
31	chr7:64541000-64542200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr7:64541000-64542200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr7:64541000-64542200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr7:64541000-64542200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:64541000-64542200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:64541000-64542200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:64541000-64542200	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr7:64541000-64542200	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr7:64541000-64542200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:64541000-64542200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:64541000-64542200	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr7:64541000-64542200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:64541000-64542200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:64541000-64542200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:64541000-64542200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:64541000-64542200	Active TSS	Liver	Liver
47	chr7:64541000-64542200	Active TSS	Brain Anterior Caudate	brain
48	chr7:64541000-64542200	Active TSS	Brain Germinal Matrix	brain
49	chr7:64541000-64542200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:64541000-64542200	Active TSS	Duodenum Mucosa	Duodenum

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