Variant report

Variant	rs567183746
Chromosome Location	chr1:212605843-212605844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:212605608-212606900	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr1:212605670-212606290	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:212605803-212606631	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:212605709-212606498	K562	blood:	n/a	n/a
5	MAX	chr1:212605550-212607019	A549	lung:	n/a	n/a
6	BHLHE40	chr1:212605658-212606293	K562	blood:	n/a	n/a
7	POLR2A	chr1:212605671-212606482	K562	blood:	n/a	n/a
8	IRF1	chr1:212605728-212606404	K562	blood:	n/a	chr1:212605917-212605929
9	CBX3	chr1:212605512-212606312	K562	blood:	n/a	n/a
10	POLR2A	chr1:212605643-212606458	GM12891	blood:	n/a	n/a
11	TBL1XR1	chr1:212605721-212606608	K562	blood:	n/a	n/a
12	CHD2	chr1:212605820-212606352	GM12878	blood:	n/a	chr1:212606199-212606209
13	MAZ	chr1:212605667-212606928	K562	blood:	n/a	n/a
14	POLR2A	chr1:212605712-212606530	K562	blood:	n/a	n/a
15	MYC	chr1:212605683-212606798	K562	blood:	n/a	n/a
16	IRF1	chr1:212605724-212606345	K562	blood:	n/a	chr1:212605917-212605929
17	USF2	chr1:212605715-212605847	GM12878	blood:	n/a	n/a
18	GTF2F1	chr1:212605831-212606282	K562	blood:	n/a	n/a
19	POLR2A	chr1:212605677-212606513	K562	blood:	n/a	n/a
20	HEY1	chr1:212605841-212606536	HepG2	liver:	n/a	chr1:212606244-212606259
21	MXI1	chr1:212605617-212607548	SK-N-SH	brain:	n/a	chr1:212607146-212607155
22	RCOR1	chr1:212605614-212606362	K562	blood:	n/a	n/a
23	POLR2A	chr1:212605694-212606425	U87	brain:	n/a	n/a
24	EGR1	chr1:212605482-212605914	K562	blood:	n/a	chr1:212605675-212605689 chr1:212605699-212605713
25	STAT3	chr1:212605827-212606027	MCF10A-Er-Src	breast:	n/a	n/a
26	ZMIZ1	chr1:212605717-212606290	K562	blood:	n/a	n/a
27	POLR2A	chr1:212605812-212606501	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr1:212605801-212606511	GM12892	blood:	n/a	n/a
29	POLR2A	chr1:212605793-212606623	PBDE	blood:	n/a	n/a
30	MYC	chr1:212605706-212606824	K562	blood:	n/a	n/a
31	POLR2A	chr1:212605827-212606355	SK-N-SH	brain:	n/a	n/a
32	MAZ	chr1:212605831-212607218	IMR90	lung:	n/a	chr1:212607061-212607071 chr1:212607087-212607097
33	MAX	chr1:212605740-212606441	NB4	blood:	n/a	n/a
34	POLR2A	chr1:212605557-212606538	K562	blood:	n/a	n/a
35	SMARCC2	chr1:212605748-212606712	Hela-S3	cervix:	n/a	n/a
36	CCNT2	chr1:212605784-212606756	K562	blood:	n/a	n/a
37	EP300	chr1:212605836-212606295	GM12878	blood:	n/a	n/a
38	MXI1	chr1:212605681-212606384	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:212605700-212606484	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:212605797-212606486	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:212605717-212606438	GM12878	blood:	n/a	n/a
42	MXI1	chr1:212605737-212606289	K562	blood:	n/a	n/a
43	POLR2A	chr1:212605805-212606438	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr1:212605717-212606676	K562	blood:	n/a	n/a
45	MTA3	chr1:212605585-212606288	GM12878	blood:	n/a	n/a
46	EP300	chr1:212605660-212606239	K562	blood:	n/a	n/a
47	TBL1XR1	chr1:212605694-212606241	K562	blood:	n/a	n/a
48	ZNF263	chr1:212605578-212606797	HEK293-T-REx	kidney:	n/a	n/a
49	POLR2A	chr1:212605605-212606620	HepG2	liver:	n/a	n/a
50	PML	chr1:212605609-212606399	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212587912..212590110-chr1:212604889..212609190,4	K562	blood:
2	chr1:212596755..212599311-chr1:212603910..212605843,2	MCF-7	breast:
3	chr1:212585974..212594847-chr1:212598812..212609579,19	K562	blood:
4	chr1:212598606..212601343-chr1:212603803..212606120,2	K562	blood:
5	chr1:212604504..212608752-chr1:212780786..212783858,6	K562	blood:
6	chr1:212591382..212593654-chr1:212604322..212606198,2	K562	blood:
7	chr1:212586060..212592297-chr1:212603893..212609565,9	MCF-7	breast:

No data

Variant related genes	Relation type
NENF	TF binding region
ENSG00000162772	Chromatin interaction
ENSG00000065600	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3389348	chr1:212605479-212607477	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:212603400-212606000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:212604400-212606000	Enhancers	Small Intestine	intestine
3	chr1:212604600-212606400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:212605000-212606000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:212605000-212606000	Enhancers	Lung	lung
6	chr1:212605000-212606000	Enhancers	Pancreas	Pancrea
7	chr1:212605000-212606000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr1:212605200-212606000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:212605400-212606000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:212605600-212606000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:212605600-212606000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:212605600-212606000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212605600-212606000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:212605600-212606000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr1:212605600-212606000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr1:212605600-212606000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:212605600-212606000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:212605600-212606000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:212605600-212606000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:212605600-212606000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:212605600-212606000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr1:212605600-212606000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:212605600-212606000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:212605600-212606000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:212605600-212606000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:212605600-212606000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:212605600-212606000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:212605600-212606000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:212605600-212606000	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr1:212605600-212606000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr1:212605600-212606000	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr1:212605600-212606000	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr1:212605600-212606000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:212605600-212606000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:212605600-212606000	Flanking Active TSS	Fetal Heart	heart
36	chr1:212605600-212606000	Enhancers	Gastric	stomach
37	chr1:212605600-212606000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:212605600-212606000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr1:212605600-212606000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:212605600-212606000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr1:212605600-212606000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr1:212605600-212606000	Flanking Active TSS	GM12878-XiMat	blood
43	chr1:212605600-212606000	Flanking Active TSS	Hela-S3	cervix
44	chr1:212605600-212606000	Flanking Active TSS	HMEC	breast
45	chr1:212605600-212606000	Flanking Active TSS	HSMM	muscle
46	chr1:212605600-212606000	Flanking Active TSS	NHEK	skin
47	chr1:212605600-212606000	Flanking Active TSS	Osteobl	bone
48	chr1:212605600-212606200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:212605600-212606200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:212605600-212606200	Active TSS	Fetal Brain Male	brain

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