Variant report

Variant	rs373856551
Chromosome Location	chr1:47902462-47902463
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	RAD21	chr1:47901943-47902736	HCT-116	colon:	n/a	chr1:47902581-47902591 chr1:47902581-47902593
2	RAD21	chr1:47902125-47902523	SK-N-SH_RA	brain:	n/a	n/a
3	MTA3	chr1:47901994-47902922	GM12878	blood:	n/a	n/a
4	MXI1	chr1:47902143-47902673	HepG2	liver:	n/a	chr1:47902655-47902670
5	CTCF	chr1:47902119-47902522	GM19238	blood:	n/a	n/a
6	POLR2A	chr1:47902127-47903588	GM12878	blood:	n/a	n/a
7	RAD21	chr1:47901998-47902598	ECC-1	luminal epithelium:	n/a	chr1:47902581-47902591 chr1:47902581-47902593
8	CTCF	chr1:47901969-47903966	A549	lung:	n/a	chr1:47903695-47903708 chr1:47903638-47903654 chr1:47903640-47903649 chr1:47903639-47903660 chr1:47903640-47903653 chr1:47903637-47903655 chr1:47903640-47903653 chr1:47903642-47903652 chr1:47902578-47902591
9	RAD21	chr1:47902110-47902546	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr1:47902153-47902534	A549	lung:	n/a	n/a
11	RAD21	chr1:47902140-47902501	HepG2	liver:	n/a	n/a
12	CTCF	chr1:47902083-47903846	IMR90	lung:	n/a	chr1:47903695-47903708 chr1:47903638-47903654 chr1:47903640-47903649 chr1:47903639-47903660 chr1:47903640-47903653 chr1:47903637-47903655 chr1:47903640-47903653 chr1:47903642-47903652 chr1:47902578-47902591
13	TCF7L2	chr1:47902190-47903850	HCT-116	colon:	n/a	n/a
14	CEBPB	chr1:47902349-47902651	K562	blood:	n/a	n/a
15	ELF1	chr1:47902073-47903938	K562	blood:	n/a	chr1:47903423-47903436 chr1:47903588-47903600 chr1:47903133-47903145 chr1:47903288-47903300 chr1:47903322-47903331 chr1:47903787-47903796 chr1:47903785-47903797 chr1:47903292-47903301 chr1:47903793-47903802 chr1:47903655-47903667 chr1:47903784-47903793 chr1:47903788-47903800 chr1:47903315-47903327
16	RCOR1	chr1:47901790-47903838	K562	blood:	n/a	n/a
17	CTCF	chr1:47902044-47902545	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr1:47902053-47902463	GM12878	blood:	n/a	n/a
19	FOXM1	chr1:47902048-47902487	GM12878	blood:	n/a	n/a
20	UBTF	chr1:47902126-47904027	K562	blood:	n/a	n/a
21	BHLHE40	chr1:47902112-47902522	GM12878	blood:	n/a	n/a
22	ZBTB7A	chr1:47902143-47904182	K562	blood:	n/a	chr1:47903645-47903654
23	TEAD4	chr1:47902058-47902596	K562	blood:	n/a	n/a
24	MAX	chr1:47902072-47903880	NB4	blood:	n/a	chr1:47903585-47903595 chr1:47903694-47903704 chr1:47902435-47902445
25	NR2F2	chr1:47902020-47902814	K562	blood:	n/a	n/a
26	POLR2A	chr1:47902034-47904062	HEK293	kidney:	n/a	n/a
27	STAT5A	chr1:47901959-47902550	GM12878	blood:	n/a	n/a
28	CTCF	chr1:47902130-47902462	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:47901959-47902920	HCT-116	colon:	n/a	n/a
30	SIN3A	chr1:47902111-47902542	GM12878	blood:	n/a	n/a
31	WRNIP1	chr1:47902134-47902749	GM12878	blood:	n/a	n/a
32	SPI1	chr1:47902149-47902504	GM12891	blood:	n/a	n/a
33	PML	chr1:47902037-47902695	GM12878	blood:	n/a	n/a
34	HNF4A	chr1:47902374-47902678	HepG2	liver:	n/a	chr1:47902552-47902565 chr1:47902552-47902567 chr1:47902553-47902565 chr1:47902552-47902565 chr1:47902551-47902566 chr1:47902548-47902570 chr1:47902552-47902566
35	NFIC	chr1:47902137-47902615	ECC-1	luminal epithelium:	n/a	n/a
36	TCF12	chr1:47902015-47902694	A549	lung:	n/a	chr1:47902311-47902321
37	CEBPB	chr1:47902410-47902552	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:47902066-47903914	Hela-S3	cervix:	n/a	n/a
39	HDAC2	chr1:47902202-47902801	HepG2	liver:	n/a	n/a
40	MAX	chr1:47902080-47904090	HepG2	liver:	n/a	chr1:47903585-47903595 chr1:47903694-47903704 chr1:47902435-47902445
41	CREB1	chr1:47902014-47904068	HepG2	liver:	n/a	n/a
42	ZNF143	chr1:47902128-47902535	Hela-S3	cervix:	n/a	n/a
43	SPI1	chr1:47902134-47902473	GM12878	blood:	n/a	n/a
44	TAF1	chr1:47902258-47902601	K562	blood:	n/a	n/a
45	POLR2A	chr1:47902209-47903023	Hela-S3	cervix:	n/a	n/a
46	CCNT2	chr1:47902133-47904058	K562	blood:	n/a	chr1:47903693-47903702
47	ELF1	chr1:47902192-47902622	HepG2	liver:	n/a	n/a
48	RAD21	chr1:47902086-47902565	ECC-1	luminal epithelium:	n/a	n/a
49	RAD21	chr1:47901592-47902663	SK-N-SH	brain:	n/a	chr1:47902581-47902591 chr1:47902581-47902593
50	CTCF	chr1:47902152-47902474	Lung_OC	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47901774..47903783-chr1:47905502..47907193,2	MCF-7	breast:
2	chr1:47901790..47903824-chr1:48190200..48191775,2	K562	blood:
3	chr1:47902132..47902815-chr1:48175858..48176824,3	MCF-7	breast:
4	chr1:47902221..47904815-chr1:47929260..47931018,2	K562	blood:
5	chr1:47902455..47903363-chr10:89577216..89577997,2	Hela-S3	cervix:
6	chr1:47901999..47903599-chr1:48174794..48176429,2	MCF-7	breast:
7	chr1:47901910..47902768-chr1:48089857..48090558,2	K562	blood:
8	chr1:47901811..47902631-chr1:47910399..47911268,2	K562	blood:
9	chr1:47902027..47902996-chr1:47935255..47935856,2	K562	blood:
10	chr1:47901842..47902786-chr1:48175848..48176467,3	K562	blood:

Variant related genes	Relation type
FOXD2-AS1	TF binding region
ENSG00000223820	Chromatin interaction
ENSG00000138138	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534956	chr1:47882277-47905486	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv534957	chr1:47882277-47907965	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3432093	chr1:47901465-47906063	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3406880	chr1:47901890-47905238	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47899000-47904400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:47901400-47902800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr1:47901400-47908000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr1:47901600-47902600	Flanking Active TSS	GM12878-XiMat	blood
5	chr1:47901600-47902800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr1:47901600-47902800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
7	chr1:47901800-47902600	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr1:47901800-47902800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:47901800-47902800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:47901800-47902800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
11	chr1:47901800-47903200	Flanking Active TSS	Liver	Liver
12	chr1:47901800-47903200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr1:47901800-47904000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr1:47901800-47904600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:47902000-47902600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:47902000-47902600	Bivalent/Poised TSS	Psoas Muscle	Psoas
17	chr1:47902000-47902800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:47902000-47902800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:47902000-47902800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:47902000-47902800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:47902000-47902800	Flanking Active TSS	Colonic Mucosa	Colon
22	chr1:47902000-47902800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr1:47902000-47902800	Bivalent Enhancer	Fetal Heart	heart
24	chr1:47902000-47902800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
25	chr1:47902000-47902800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr1:47902000-47903000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:47902000-47903000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:47902000-47903200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:47902000-47903200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:47902000-47903200	Flanking Active TSS	HUVEC	blood vessel
31	chr1:47902000-47903600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:47902000-47904400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
33	chr1:47902000-47904400	Active TSS	A549	lung
34	chr1:47902000-47904800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr1:47902200-47902600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:47902200-47902600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:47902200-47902600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr1:47902200-47902600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr1:47902200-47902600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:47902200-47902600	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr1:47902200-47902600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
42	chr1:47902200-47902800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
43	chr1:47902200-47902800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr1:47902200-47902800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr1:47902200-47902800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr1:47902200-47902800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:47902200-47902800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:47902200-47902800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
49	chr1:47902200-47902800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr1:47902200-47902800	Active TSS	Right Ventricle	heart

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