Variant report

Variant	rs149168497
Chromosome Location	chr1:47902171-47902172
allele	A/C
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	USF2	chr1:47902125-47902446	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:47902127-47903588	GM12878	blood:	n/a	n/a
8	RAD21	chr1:47901998-47902598	ECC-1	luminal epithelium:	n/a	chr1:47902581-47902591 chr1:47902581-47902593
9	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
10	RAD21	chr1:47902110-47902546	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr1:47902153-47902534	A549	lung:	n/a	n/a
12	RAD21	chr1:47902140-47902501	HepG2	liver:	n/a	n/a
13	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
14	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
15	ELF1	chr1:47902132-47902414	HepG2	liver:	n/a	n/a
16	CREB1	chr1:47902163-47902445	A549	lung:	n/a	n/a
17	RCOR1	chr1:47901790-47903838	K562	blood:	n/a	n/a
18	CTCF	chr1:47902044-47902545	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr1:47902053-47902463	GM12878	blood:	n/a	n/a
20	FOXM1	chr1:47902048-47902487	GM12878	blood:	n/a	n/a
21	UBTF	chr1:47902126-47904027	K562	blood:	n/a	n/a
22	BHLHE40	chr1:47902112-47902522	GM12878	blood:	n/a	n/a
23	ZBTB7A	chr1:47902143-47904182	K562	blood:	n/a	chr1:47903645-47903654
24	TEAD4	chr1:47902058-47902596	K562	blood:	n/a	n/a
25	CTCF	chr1:47902170-47902432	LNCaP	prostate:	n/a	n/a
26	TCF12	chr1:47902159-47902373	GM12878	blood:	n/a	chr1:47902311-47902321
27	CTCF	chr1:47902160-47902310	HAc	cerebellar:	n/a	n/a
28	MAX	chr1:47902072-47903880	NB4	blood:	n/a	chr1:47903585-47903595 chr1:47903694-47903704 chr1:47902435-47902445
29	NR2F2	chr1:47902020-47902814	K562	blood:	n/a	n/a
30	ZNF384	chr1:47901817-47902461	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:47902034-47904062	HEK293	kidney:	n/a	n/a
32	STAT5A	chr1:47901959-47902550	GM12878	blood:	n/a	n/a
33	CTCF	chr1:47902130-47902462	MCF-7	breast:	n/a	n/a
34	POLR2A	chr1:47901959-47902920	HCT-116	colon:	n/a	n/a
35	SIN3A	chr1:47902111-47902542	GM12878	blood:	n/a	n/a
36	WRNIP1	chr1:47902134-47902749	GM12878	blood:	n/a	n/a
37	CTCF	chr1:47902167-47902401	SK-N-SH_RA	brain:	n/a	n/a
38	SPI1	chr1:47902149-47902504	GM12891	blood:	n/a	n/a
39	PML	chr1:47902037-47902695	GM12878	blood:	n/a	n/a
40	NFIC	chr1:47902137-47902615	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr1:47902116-47902451	Spleen_OC	spleen:	n/a	n/a
42	TCF12	chr1:47902015-47902694	A549	lung:	n/a	chr1:47902311-47902321
43	POLR2A	chr1:47902066-47903914	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr1:47902161-47902430	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr1:47902141-47902430	Pancreas_OC	pancreas:	n/a	n/a
46	MAX	chr1:47902080-47904090	HepG2	liver:	n/a	chr1:47903585-47903595 chr1:47903694-47903704 chr1:47902435-47902445
47	CREB1	chr1:47902014-47904068	HepG2	liver:	n/a	n/a
48	ZNF143	chr1:47902128-47902535	Hela-S3	cervix:	n/a	n/a
49	SPI1	chr1:47902134-47902473	GM12878	blood:	n/a	n/a
50	CTCF	chr1:47902134-47902451	K562	blood:	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	chr1:47901999..47903599-chr1:48174794..48176429,2	MCF-7	breast:
5	chr1:47901910..47902768-chr1:48089857..48090558,2	K562	blood:
6	chr1:47901811..47902631-chr1:47910399..47911268,2	K562	blood:
7	chr1:47902027..47902996-chr1:47935255..47935856,2	K562	blood:
8	chr1:47901842..47902786-chr1:48175848..48176467,3	K562	blood:

Variant related genes	Relation type
FOXD2-AS1	TF binding region

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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47899000-47904400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:47899200-47902200	Weak transcription	Gastric	stomach
3	chr1:47900400-47902200	Weak transcription	Lung	lung
4	chr1:47900400-47902200	Weak transcription	Pancreas	Pancrea
5	chr1:47900400-47902200	Weak transcription	Right Atrium	heart
6	chr1:47901400-47902200	Enhancers	Spleen	Spleen
7	chr1:47901400-47902200	Flanking Active TSS	Hela-S3	cervix
8	chr1:47901400-47902400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
9	chr1:47901400-47902800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr1:47901400-47908000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr1:47901600-47902200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr1:47901600-47902200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:47901600-47902200	Flanking Active TSS	HepG2	liver
14	chr1:47901600-47902600	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:47901600-47902800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr1:47901600-47902800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
17	chr1:47901800-47902200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:47901800-47902200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr1:47901800-47902200	Bivalent Enhancer	Primary T cells from cord blood	blood
20	chr1:47901800-47902200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
21	chr1:47901800-47902200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:47901800-47902200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:47901800-47902200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:47901800-47902200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:47901800-47902200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr1:47901800-47902200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
27	chr1:47901800-47902200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr1:47901800-47902200	Flanking Active TSS	HMEC	breast
29	chr1:47901800-47902200	Flanking Active TSS	K562	blood
30	chr1:47901800-47902400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:47901800-47902400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:47901800-47902400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:47901800-47902400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr1:47901800-47902400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:47901800-47902400	Bivalent Enhancer	Fetal Lung	lung
36	chr1:47901800-47902400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr1:47901800-47902400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr1:47901800-47902600	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr1:47901800-47902800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:47901800-47902800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:47901800-47902800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr1:47901800-47903200	Flanking Active TSS	Liver	Liver
43	chr1:47901800-47903200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr1:47901800-47904000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr1:47901800-47904600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:47902000-47902200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
47	chr1:47902000-47902200	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
48	chr1:47902000-47902200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:47902000-47902200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:47902000-47902200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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