Variant report

Variant	rs587596455
Chromosome Location	chr1:147071097-147071098
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	ZBTB7A	chr1:147070761-147071654	ECC-1	luminal epithelium:	n/a	n/a
2	SP4	chr1:147070853-147071976	H1-hESC	embryonic stem cell:	n/a	chr1:147071618-147071634 chr1:147071350-147071361
3	POLR2A	chr1:147071055-147071610	ECC-1	luminal epithelium:	n/a	n/a
4	MYC	chr1:147070959-147071414	MCF-7	breast:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
5	MAX	chr1:147070912-147071620	A549	lung:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
6	POLR2A	chr1:147070997-147071716	Hela-S3	cervix:	n/a	n/a
7	ELF1	chr1:147070738-147072300	GM12878	blood:	n/a	chr1:147071754-147071766 chr1:147070999-147071011 chr1:147072164-147072176
8	POLR2A	chr1:147070822-147071556	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:147070576-147071571	HEK293	kidney:	n/a	n/a
10	YY1	chr1:147070911-147071157	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr1:147070892-147071923	H1-hESC	embryonic stem cell:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
12	GTF2F1	chr1:147071016-147071557	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr1:147070912-147071636	H1-hESC	embryonic stem cell:	n/a	chr1:147071567-147071576 chr1:147071623-147071635 chr1:147071317-147071329 chr1:147071397-147071406 chr1:147071389-147071401 chr1:147071268-147071275
14	MAZ	chr1:147070303-147073025	IMR90	lung:	n/a	chr1:147072841-147072851 chr1:147072253-147072263 chr1:147072658-147072667 chr1:147071284-147071294 chr1:147071315-147071325
15	CREB1	chr1:147070784-147072309	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:147070964-147072213	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:147070739-147071541	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr1:147070750-147072205	IMR90	lung:	n/a	n/a
19	MAX	chr1:147070894-147072254	ECC-1	luminal epithelium:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
20	POLR2A	chr1:147070502-147071731	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:147071056-147071697	U87	brain:	n/a	n/a
22	TAF1	chr1:147070732-147071541	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:147070992-147071736	U87	brain:	n/a	n/a
24	SIN3A	chr1:147070386-147072756	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr1:147070877-147072124	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr1:147070846-147072327	GM12878	blood:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588 chr1:147071268-147071275
27	CHD1	chr1:147070383-147072260	IMR90	lung:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588 chr1:147071268-147071275
28	POLR2A	chr1:147070765-147071125	H1-hESC	embryonic stem cell:	n/a	n/a
29	MXI1	chr1:147071065-147072820	HepG2	liver:	n/a	n/a
30	ZBTB7A	chr1:147070670-147071543	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr1:147070399-147072282	H1-neurons	neurons:	n/a	n/a
32	JUND	chr1:147070243-147073063	SK-N-SH	brain:	n/a	chr1:147071760-147071769 chr1:147072658-147072668 chr1:147072659-147072667 chr1:147071280-147071289 chr1:147072657-147072668 chr1:147072706-147072717 chr1:147072659-147072667 chr1:147071571-147071580 chr1:147072658-147072668 chr1:147071393-147071402 chr1:147072709-147072719 chr1:147072660-147072667 chr1:147072710-147072718 chr1:147072658-147072668
33	YY1	chr1:147070910-147071203	GM12878	blood:	n/a	n/a
34	CHD2	chr1:147071076-147071496	K562	blood:	n/a	chr1:147071268-147071275
35	CHD1	chr1:147070925-147071284	GM12878	blood:	n/a	chr1:147071268-147071275
36	MAX	chr1:147070597-147072196	A549	lung:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
37	REST	chr1:147070854-147072552	H1-neurons	neurons:	n/a	chr1:147072137-147072150 chr1:147070999-147071012 chr1:147071576-147071589
38	MAX	chr1:147070807-147072092	SK-N-SH	brain:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
39	TAF1	chr1:147070793-147071107	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:147070835-147071545	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr1:147071053-147071462	H1-hESC	embryonic stem cell:	n/a	n/a
42	TEAD4	chr1:147070975-147071583	ECC-1	luminal epithelium:	n/a	n/a
43	RAD21	chr1:147070613-147072266	H1-hESC	embryonic stem cell:	n/a	chr1:147072139-147072148 chr1:147071620-147071630 chr1:147070999-147071011 chr1:147071521-147071540
44	MYC	chr1:147070962-147071449	H1-hESC	embryonic stem cell:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
45	E2F6	chr1:147070899-147071577	H1-hESC	embryonic stem cell:	n/a	chr1:147071567-147071576 chr1:147071317-147071329 chr1:147071397-147071406 chr1:147071389-147071401 chr1:147071268-147071275
46	ZNF263	chr1:147070966-147071299	HEK293-T-REx	kidney:	n/a	n/a
47	MAZ	chr1:147070917-147072374	HepG2	liver:	n/a	chr1:147072253-147072263 chr1:147071284-147071294 chr1:147071315-147071325
48	HCFC1	chr1:147070439-147072985	Hela-S3	cervix:	n/a	n/a
49	JUND	chr1:147070864-147072127	K562	blood:	n/a	chr1:147071760-147071769 chr1:147071280-147071289 chr1:147071571-147071580 chr1:147071393-147071402
50	TEAD4	chr1:147071016-147071455	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:146985951..146991555-chr1:147068919..147074935,7	MCF-7	breast:
2	chr1:147011744..147014234-chr1:147070783..147073063,3	K562	blood:
3	chr1:147053305..147055800-chr1:147069628..147071755,2	K562	blood:
4	chr1:147070010..147071633-chr1:147096547..147098261,2	MCF-7	breast:
5	chr1:147050198..147052278-chr1:147069069..147071118,3	MCF-7	breast:
6	chr1:147012761..147015831-chr1:147068894..147072363,4	MCF-7	breast:
7	chr1:147008733..147014706-chr1:147069097..147075030,9	MCF-7	breast:
8	chr1:147011744..147014234-chr1:147070783..147072314,2	K562	blood:

Variant related genes	Relation type
BCL9	TF binding region
ENSG00000116128	Chromatin interaction
ENSG00000234610	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	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
3	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	110 gene(s)	inside rSNPs	diseases
4	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	113 gene(s)	inside rSNPs	diseases
6	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	111 gene(s)	inside rSNPs	diseases
8	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	49 gene(s)	inside rSNPs	diseases
16	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS 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
18	nsv534063	chr1:146807433-147381411	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv831414	chr1:146884994-147083866	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1001868	chr1:146893791-147389944	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv482606	chr1:146959127-147134517	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	nsv872266	chr1:147020099-147381558	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
23	esv3395068	chr1:147070353-147073501	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv3360151	chr1:147070528-147073326	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv3348193	chr1:147071070-147071255	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 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	chr1:147069800-147071200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:147070000-147072400	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:147070200-147071200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr1:147070200-147071200	Flanking Active TSS	Liver	Liver
5	chr1:147070200-147071200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr1:147070200-147071400	Active TSS	Primary T cells from cord blood	blood
7	chr1:147070200-147072400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:147070200-147072400	Active TSS	Brain Angular Gyrus	brain
9	chr1:147070200-147072400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:147070200-147072400	Active TSS	Psoas Muscle	Psoas
11	chr1:147070200-147073000	Active TSS	Right Atrium	heart
12	chr1:147070200-147073200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:147070200-147073600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:147070400-147071200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:147070400-147071200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:147070400-147071200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
17	chr1:147070400-147071200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:147070400-147071200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:147070400-147071200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr1:147070400-147071200	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr1:147070400-147071200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
22	chr1:147070400-147071200	Flanking Bivalent TSS/Enh	Dnd41	blood
23	chr1:147070400-147071200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr1:147070400-147071200	Flanking Active TSS	NH-A	brain
25	chr1:147070400-147071200	Flanking Bivalent TSS/Enh	NHEK	skin
26	chr1:147070400-147071400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:147070400-147071400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:147070400-147072400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:147070400-147072400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:147070400-147072400	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:147070400-147072400	Active TSS	Thymus	Thymus
32	chr1:147070400-147072400	Active TSS	Hela-S3	cervix
33	chr1:147070400-147072600	Active TSS	Brain Substantia Nigra	brain
34	chr1:147070400-147072600	Active TSS	Ovary	ovary
35	chr1:147070400-147072800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:147070400-147072800	Active TSS	Aorta	Aorta
37	chr1:147070400-147073200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:147070600-147071200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:147070600-147071200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr1:147070600-147071200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr1:147070600-147071200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr1:147070600-147071200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr1:147070600-147071200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr1:147070600-147071200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:147070600-147071200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:147070600-147071200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:147070600-147071200	Active TSS	Fetal Heart	heart
48	chr1:147070600-147071200	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr1:147070600-147071200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr1:147070600-147071200	Flanking Active TSS	HSMM	muscle

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