Variant report

Variant	rs543745748
Chromosome Location	chr1:228400513-228400514
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:228399607-228402252	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:228399563-228400691	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr1:228400168-228400600	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr1:228400398-228400976	H1-hESC	embryonic stem cell:	n/a	chr1:228400688-228400698 chr1:228400683-228400693
5	SMARCB1	chr1:228400336-228401484	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr1:228400149-228402453	SK-N-SH	brain:	n/a	n/a
7	BACH1	chr1:228399752-228400928	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr1:228399839-228402012	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr1:228399552-228400695	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr1:228400505-228402251	IMR90	lung:	n/a	n/a
11	CBX3	chr1:228400194-228400985	K562	blood:	n/a	n/a
12	E2F6	chr1:228399633-228400711	H1-hESC	embryonic stem cell:	n/a	chr1:228400690-228400699
13	MAX	chr1:228400476-228401850	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228352301..228356055-chr1:228400478..228402839,5	K562	blood:
2	chr1:228400032..228401961-chr1:228675104..228677391,2	MCF-7	breast:
3	chr1:228399534..228402324-chr1:228461653..228463776,2	MCF-7	breast:
4	chr1:228270338..228271968-chr1:228400103..228402238,2	MCF-7	breast:
5	chr1:228399724..228401498-chr1:228644939..228647172,2	MCF-7	breast:
6	chr1:228399573..228401373-chr1:228480199..228482605,2	K562	blood:
7	chr1:228400118..228403034-chr1:228591844..228593875,2	MCF-7	breast:
8	chr1:228399084..228400867-chr1:228463770..228467227,3	K562	blood:
9	chr1:228360767..228363057-chr1:228399837..228402220,2	MCF-7	breast:

No data

Variant related genes	Relation type
OBSCN	TF binding region
ENSG00000181218	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000269934	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000269890	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000168159	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000143761	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	esv3419574	chr1:228397729-228402327	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	esv3397989	chr1:228398279-228402677	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
14	esv3361766	chr1:228399154-228401702	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
15	esv3383939	chr1:228399179-228401177	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	esv3358379	chr1:228399204-228403102	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228395800-228405200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr1:228397200-228401000	Enhancers	Fetal Heart	heart
3	chr1:228397800-228400800	Weak transcription	HSMMtube	muscle
4	chr1:228398800-228402000	Active TSS	Psoas Muscle	Psoas
5	chr1:228399000-228400600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
6	chr1:228399600-228400800	Genic enhancers	Left Ventricle	heart
7	chr1:228399600-228400800	Enhancers	Spleen	Spleen
8	chr1:228399800-228400600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr1:228400000-228400600	Transcr. at gene 5' and 3'	Right Ventricle	heart
10	chr1:228400000-228400600	Bivalent Enhancer	NH-A	brain
11	chr1:228400000-228401800	Active TSS	Thymus	Thymus
12	chr1:228400000-228402400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:228400000-228402600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:228400200-228400600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:228400200-228400600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:228400200-228400600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:228400200-228400600	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:228400200-228400600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr1:228400200-228400600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:228400200-228400600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:228400200-228400600	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
29	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:228400200-228400600	Flanking Active TSS	Esophagus	oesophagus
31	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
33	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr1:228400200-228400600	Flanking Active TSS	Fetal Lung	lung
35	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr1:228400200-228400600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
38	chr1:228400200-228400600	Enhancers	Right Atrium	heart
39	chr1:228400200-228400800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:228400200-228400800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:228400200-228400800	Enhancers	Pancreas	Pancrea
42	chr1:228400200-228400800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:228400200-228401000	Bivalent Enhancer	Placenta	Placenta
44	chr1:228400200-228401200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr1:228400200-228401200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:228400200-228401400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr1:228400200-228401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:228400200-228401800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:228400200-228401800	Active TSS	Brain Angular Gyrus	brain
50	chr1:228400200-228402200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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