Variant report

Variant	rs144229015
Chromosome Location	chr1:147070721-147070722
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	chr1:147070576-147071571	HEK293	kidney:	n/a	n/a
2	MAZ	chr1:147070303-147073025	IMR90	lung:	n/a	chr1:147072841-147072851 chr1:147072253-147072263 chr1:147072658-147072667 chr1:147071284-147071294 chr1:147071315-147071325
3	POLR2A	chr1:147070502-147071731	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr1:147070386-147072756	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr1:147070383-147072260	IMR90	lung:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588 chr1:147071268-147071275
6	ZBTB7A	chr1:147070670-147071543	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr1:147070399-147072282	H1-neurons	neurons:	n/a	n/a
8	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
9	MAX	chr1:147070597-147072196	A549	lung:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
10	RAD21	chr1:147070613-147072266	H1-hESC	embryonic stem cell:	n/a	chr1:147072139-147072148 chr1:147071620-147071630 chr1:147070999-147071011 chr1:147071521-147071540
11	HCFC1	chr1:147070439-147072985	Hela-S3	cervix:	n/a	n/a
12	GATA2	chr1:147070210-147071081	SH-SY5Y	brain:	n/a	n/a
13	POLR2A	chr1:147070655-147070731	HepG2	liver:	n/a	n/a
14	MXI1	chr1:147070300-147072473	IMR90	lung:	n/a	n/a
15	MAX	chr1:147070697-147073188	MCF-7	breast:	n/a	chr1:147072841-147072851 chr1:147072253-147072263 chr1:147072658-147072667 chr1:147071284-147071294 chr1:147071315-147071325
16	SIN3AK20	chr1:147070681-147071024	SK-N-SH	brain:	n/a	n/a
17	MAX	chr1:147070580-147071954	ECC-1	luminal epithelium:	n/a	chr1:147071284-147071294 chr1:147071315-147071325
18	ELF1	chr1:147070292-147072217	MCF-7	breast:	n/a	chr1:147071754-147071766 chr1:147070999-147071011 chr1:147072164-147072176
19	POLR2A	chr1:147070447-147071788	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr1:147070494-147071848	PFSK-1	brain:	n/a	n/a
21	MXI1	chr1:147070713-147071377	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:147070503-147072495	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr1:147070677-147072015	H1-hESC	embryonic stem cell:	n/a	chr1:147071566-147071578 chr1:147071836-147071845 chr1:147071760-147071772 chr1:147070998-147071012 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 chr1:147071541-147071553 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 chr1:147071568-147071577 chr1:147071762-147071771 chr1:147071568-147071577

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

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:124 , 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	chr1:147070000-147070800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
3	chr1:147070000-147072400	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:147070200-147070800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr1:147070200-147070800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:147070200-147070800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:147070200-147070800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr1:147070200-147070800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr1:147070200-147070800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:147070200-147070800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:147070200-147070800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr1:147070200-147070800	Flanking Active TSS	Fetal Brain Male	brain
13	chr1:147070200-147070800	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr1:147070200-147070800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr1:147070200-147071000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:147070200-147071000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr1:147070200-147071000	Flanking Active TSS	Fetal Brain Female	brain
18	chr1:147070200-147071200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr1:147070200-147071200	Flanking Active TSS	Liver	Liver
20	chr1:147070200-147071200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr1:147070200-147071400	Active TSS	Primary T cells from cord blood	blood
22	chr1:147070200-147072400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:147070200-147072400	Active TSS	Brain Angular Gyrus	brain
24	chr1:147070200-147072400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr1:147070200-147072400	Active TSS	Psoas Muscle	Psoas
26	chr1:147070200-147073000	Active TSS	Right Atrium	heart
27	chr1:147070200-147073200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:147070200-147073600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:147070400-147070800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr1:147070400-147070800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:147070400-147070800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:147070400-147070800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:147070400-147070800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr1:147070400-147070800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr1:147070400-147070800	Active TSS	Colonic Mucosa	Colon
36	chr1:147070400-147070800	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr1:147070400-147070800	Flanking Active TSS	Fetal Stomach	stomach
38	chr1:147070400-147070800	Flanking Active TSS	Pancreas	Pancrea
39	chr1:147070400-147070800	Flanking Active TSS	Right Ventricle	heart
40	chr1:147070400-147070800	Bivalent/Poised TSS	HSMMtube	muscle
41	chr1:147070400-147071000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr1:147070400-147071000	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr1:147070400-147071000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr1:147070400-147071000	Flanking Bivalent TSS/Enh	A549	lung
45	chr1:147070400-147071000	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
46	chr1:147070400-147071000	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr1:147070400-147071200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:147070400-147071200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:147070400-147071200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
50	chr1:147070400-147071200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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