Variant report

Variant	rs115058963
Chromosome Location	chr1:147071696-147071697
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	MXI1	chr1:147071684-147071781	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP4	chr1:147070853-147071976	H1-hESC	embryonic stem cell:	n/a	chr1:147071618-147071634 chr1:147071350-147071361
3	POLR2A	chr1:147071164-147071792	HepG2	liver:	n/a	n/a
4	TAF1	chr1:147071694-147072108	HepG2	liver:	n/a	n/a
5	EP300	chr1:147071427-147072271	ECC-1	luminal epithelium:	n/a	chr1:147071453-147071466
6	HEY1	chr1:147071167-147072233	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:147070997-147071716	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr1:147070738-147072300	GM12878	blood:	n/a	chr1:147071754-147071766 chr1:147070999-147071011 chr1:147072164-147072176
9	FOXP2	chr1:147071247-147072067	PFSK-1	brain:	n/a	n/a
10	SP1	chr1:147071102-147072260	HCT-116	colon:	n/a	chr1:147072145-147072159 chr1:147071566-147071578 chr1:147071836-147071845 chr1:147071760-147071772 chr1:147072149-147072158 chr1:147071454-147071464 chr1:147071762-147071771 chr1:147071489-147071501 chr1:147071619-147071633 chr1:147071541-147071553 chr1:147071760-147071772 chr1:147071491-147071500 chr1:147071761-147071770 chr1:147071567-147071576 chr1:147072139-147072153 chr1:147071541-147071553 chr1:147072143-147072152 chr1:147071347-147071361 chr1:147071567-147071577 chr1:147071254-147071268 chr1:147071757-147071766 chr1:147071623-147071632 chr1:147071834-147071846 chr1:147071566-147071578 chr1:147071622-147071634 chr1:147071567-147071577 chr1:147071469-147071482 chr1:147071350-147071361 chr1:147072215-147072229 chr1:147071568-147071577 chr1:147071762-147071771 chr1:147071568-147071577
11	MAX	chr1:147070892-147071923	H1-hESC	embryonic stem cell:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
12	POLR2A	chr1:147071154-147072176	Raji	blood:	n/a	n/a
13	HDAC2	chr1:147071609-147071951	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOSL1	chr1:147071551-147071825	H1-hESC	embryonic stem cell:	n/a	chr1:147071760-147071769 chr1:147071571-147071580
15	CHD1	chr1:147071496-147072159	GM12878	blood:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588
16	MYC	chr1:147071315-147071887	MCF10A-Er-Src	breast:	n/a	chr1:147071315-147071325
17	MAZ	chr1:147070303-147073025	IMR90	lung:	n/a	chr1:147072841-147072851 chr1:147072253-147072263 chr1:147072658-147072667 chr1:147071284-147071294 chr1:147071315-147071325
18	POLR2A	chr1:147071122-147072319	HUVEC	blood vessel:	n/a	n/a
19	CREB1	chr1:147070784-147072309	HepG2	liver:	n/a	n/a
20	JUND	chr1:147071584-147071861	H1-hESC	embryonic stem cell:	n/a	chr1:147071760-147071769
21	POLR2A	chr1:147070964-147072213	HepG2	liver:	n/a	n/a
22	HMGN3	chr1:147071344-147072229	K562	blood:	n/a	n/a
23	EP300	chr1:147071551-147071818	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:147070750-147072205	IMR90	lung:	n/a	n/a
25	MAX	chr1:147070894-147072254	ECC-1	luminal epithelium:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
26	MXI1	chr1:147071527-147072048	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:147070502-147071731	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr1:147071632-147072165	K562	blood:	n/a	n/a
29	FOXP2	chr1:147071321-147072002	PFSK-1	brain:	n/a	n/a
30	RCOR1	chr1:147071177-147071995	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:147071056-147071697	U87	brain:	n/a	n/a
32	MAX	chr1:147071301-147072089	K562	blood:	n/a	chr1:147071315-147071325
33	POLR2A	chr1:147070992-147071736	U87	brain:	n/a	n/a
34	TCF12	chr1:147071611-147071803	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:147071566-147072182	GM12892	blood:	n/a	n/a
36	SIN3A	chr1:147070386-147072756	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr1:147070877-147072124	H1-hESC	embryonic stem cell:	n/a	n/a
38	USF2	chr1:147071651-147071768	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:147071562-147072146	A549	lung:	n/a	n/a
40	CHD2	chr1:147070846-147072327	GM12878	blood:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588 chr1:147071268-147071275
41	CHD1	chr1:147070383-147072260	IMR90	lung:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588 chr1:147071268-147071275
42	POLR2A	chr1:147071547-147072224	K562	blood:	n/a	n/a
43	MXI1	chr1:147071065-147072820	HepG2	liver:	n/a	n/a
44	BHLHE40	chr1:147071282-147072158	GM12878	blood:	n/a	chr1:147071575-147071591
45	ZEB1	chr1:147071586-147071939	GM12878	blood:	n/a	n/a
46	STAT3	chr1:147071356-147071764	MCF10A-Er-Src	breast:	n/a	chr1:147071624-147071636 chr1:147071358-147071370
47	POLR2A	chr1:147070399-147072282	H1-neurons	neurons:	n/a	n/a
48	ELF1	chr1:147071580-147071995	K562	blood:	n/a	chr1:147071754-147071766
49	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
50	CREB1	chr1:147071274-147072065	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	chr1:147012761..147015831-chr1:147068894..147072363,4	MCF-7	breast:
5	chr1:147008733..147014706-chr1:147069097..147075030,9	MCF-7	breast:
6	chr1:147071549..147073575-chr1:147083227..147085780,2	K562	blood:
7	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: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147070000-147072400	Active TSS	Stomach Smooth Muscle	stomach
2	chr1:147070200-147072400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:147070200-147072400	Active TSS	Brain Angular Gyrus	brain
4	chr1:147070200-147072400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr1:147070200-147072400	Active TSS	Psoas Muscle	Psoas
6	chr1:147070200-147073000	Active TSS	Right Atrium	heart
7	chr1:147070200-147073200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:147070200-147073600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:147070400-147072400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:147070400-147072400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:147070400-147072400	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:147070400-147072400	Active TSS	Thymus	Thymus
13	chr1:147070400-147072400	Active TSS	Hela-S3	cervix
14	chr1:147070400-147072600	Active TSS	Brain Substantia Nigra	brain
15	chr1:147070400-147072600	Active TSS	Ovary	ovary
16	chr1:147070400-147072800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:147070400-147072800	Active TSS	Aorta	Aorta
18	chr1:147070400-147073200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:147070600-147072400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:147070600-147072400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:147070600-147072400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:147070600-147072400	Active TSS	Fetal Intestine Small	intestine
23	chr1:147070600-147072400	Active TSS	Fetal Lung	lung
24	chr1:147070600-147072400	Active TSS	Gastric	stomach
25	chr1:147070600-147072400	Active TSS	Placenta Amnion	Placenta Amnion
26	chr1:147070600-147072400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:147070600-147072400	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr1:147070600-147072600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:147070600-147072600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:147070600-147072600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr1:147070600-147072600	Active TSS	Fetal Kidney	kidney
32	chr1:147070600-147072600	Active TSS	Left Ventricle	heart
33	chr1:147070600-147072600	Active TSS	NHDF-Ad	bronchial
34	chr1:147070600-147072800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:147070600-147072800	Active TSS	NHLF	lung
36	chr1:147070600-147073000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:147070800-147072200	Active TSS	Lung	lung
38	chr1:147070800-147072400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:147070800-147072400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:147070800-147072400	Active TSS	Brain Hippocampus Middle	brain
41	chr1:147070800-147072400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:147070800-147072400	Active TSS	Fetal Intestine Large	intestine
43	chr1:147070800-147072400	Active TSS	Fetal Muscle Leg	muscle
44	chr1:147070800-147072400	Active TSS	Fetal Stomach	stomach
45	chr1:147070800-147072400	Active TSS	Pancreas	Pancrea
46	chr1:147070800-147072400	Active TSS	Right Ventricle	heart
47	chr1:147070800-147072400	Active TSS	Small Intestine	intestine
48	chr1:147070800-147072400	Active TSS	Osteobl	bone
49	chr1:147070800-147072600	Active TSS	H1 Cell Line	embryonic stem cell
50	chr1:147070800-147072600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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