Variant report

Variant	rs563180425
Chromosome Location	chr1:171750323-171750324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:488)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:171749877-171750654	K562	blood:	n/a	n/a
2	POLR2A	chr1:171750109-171751171	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:171750056-171751316	GM15510	blood:	n/a	n/a
4	STAT3	chr1:171750064-171751197	MCF10A-Er-Src	breast:	n/a	chr1:171750340-171750348
5	GATA3	chr1:171750138-171751280	T-47D	breast:	n/a	chr1:171750336-171750346 chr1:171750355-171750368 chr1:171750353-171750364
6	MXI1	chr1:171749996-171752068	IMR90	lung:	n/a	n/a
7	CTCF	chr1:171750320-171750470	HMEC	breast:	n/a	chr1:171750401-171750414
8	BHLHE40	chr1:171750125-171751177	GM12878	blood:	n/a	n/a
9	USF1	chr1:171750172-171751111	A549	lung:	n/a	n/a
10	FOS	chr1:171750160-171750871	MCF10A-Er-Src	breast:	n/a	chr1:171750440-171750450
11	CREB1	chr1:171750236-171751026	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:171750194-171751015	A549	lung:	n/a	n/a
13	BRCA1	chr1:171750076-171750990	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr1:171750308-171751024	HepG2	liver:	n/a	n/a
15	TAF1	chr1:171750281-171750554	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr1:171750183-171751096	SK-N-SH	brain:	n/a	n/a
17	GABPA	chr1:171750147-171751054	HL-60	blood:	n/a	n/a
18	CTCF	chr1:171750266-171750719	GM12878	blood:	n/a	chr1:171750401-171750414
19	FOS	chr1:171750164-171750882	MCF10A-Er-Src	breast:	n/a	chr1:171750440-171750450
20	YY1	chr1:171750311-171750965	HCT-116	colon:	n/a	chr1:171750404-171750415
21	ELF1	chr1:171750073-171751084	GM12878	blood:	n/a	chr1:171750768-171750780 chr1:171750645-171750657
22	POLR2A	chr1:171750165-171751363	MCF-7	breast:	n/a	n/a
23	SP1	chr1:171750054-171751257	HCT-116	colon:	n/a	chr1:171750619-171750631 chr1:171750620-171750629 chr1:171750619-171750631 chr1:171750620-171750634
24	POLR2A	chr1:171750119-171751422	GM18951	blood:	n/a	n/a
25	REST	chr1:171749782-171751486	H1-neurons	neurons:	n/a	chr1:171750267-171750277
26	GABPA	chr1:171750091-171751405	A549	lung:	n/a	n/a
27	POLR2A	chr1:171749818-171751202	GM12892	blood:	n/a	n/a
28	CREB1	chr1:171750296-171750992	ECC-1	luminal epithelium:	n/a	n/a
29	ELF1	chr1:171749986-171751309	MCF-7	breast:	n/a	chr1:171750768-171750780 chr1:171750645-171750657
30	TEAD4	chr1:171750307-171751111	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr1:171749968-171751564	GM12878	blood:	n/a	n/a
32	CTCF	chr1:171750280-171750430	AoAF	blood vessel:	n/a	chr1:171750401-171750414
33	POLR2A	chr1:171750020-171751431	GM19099	blood:	n/a	n/a
34	MYC	chr1:171750278-171750992	K562	blood:	n/a	n/a
35	POLR2A	chr1:171750102-171750628	U87	brain:	n/a	n/a
36	POLR2A	chr1:171750249-171750565	A549	lung:	n/a	n/a
37	SP1	chr1:171750057-171751165	HCT-116	colon:	n/a	chr1:171750619-171750631 chr1:171750620-171750629 chr1:171750619-171750631 chr1:171750620-171750634
38	POLR2A	chr1:171749822-171751083	H1-hESC	embryonic stem cell:	n/a	n/a
39	CUX1	chr1:171750074-171751133	K562	blood:	n/a	n/a
40	POLR2A	chr1:171749872-171751405	Hela-S3	cervix:	n/a	n/a
41	BACH1	chr1:171750084-171750362	K562	blood:	n/a	n/a
42	GABPA	chr1:171750173-171751170	HL-60	blood:	n/a	n/a
43	ETS1	chr1:171750171-171751051	K562	blood:	n/a	chr1:171750604-171750611 chr1:171750334-171750347 chr1:171750332-171750346 chr1:171750334-171750345
44	ELF1	chr1:171750171-171751385	K562	blood:	n/a	chr1:171750768-171750780 chr1:171750645-171750657
45	POLR2A	chr1:171750171-171751049	HCT-116	colon:	n/a	n/a
46	SP1	chr1:171750074-171751204	A549	lung:	n/a	chr1:171750619-171750631 chr1:171750620-171750629 chr1:171750619-171750631 chr1:171750620-171750634
47	POLR2A	chr1:171749666-171751578	K562	blood:	n/a	n/a
48	TAF1	chr1:171750120-171751216	Hela-S3	cervix:	n/a	n/a
49	TAF1	chr1:171750274-171751024	HepG2	liver:	n/a	n/a
50	JUND	chr1:171750011-171751049	H1-hESC	embryonic stem cell:	n/a	chr1:171750440-171750450

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:171750281-171750331	HRE	kidney:	n/a
2	chr1:171750281-171750331	PANC-1	pancreas:	n/a
3	chr1:171750281-171750331	ProgFib	skin:	n/a
4	chr1:171750281-171750331	K562	blood:	n/a
5	chr1:171750281-171750331	SK-N-SH_RA	brain:	n/a
6	chr1:171750281-171750331	PFSK-1	brain:	n/a
7	chr1:171750281-171750331	HepG2	liver:	n/a
8	chr1:171750281-171750331	HIPEpiC	eye:	n/a
9	chr1:171750281-171750331	HRCEpiC	kidney:	n/a
10	chr1:171750281-171750331	HCPEpiC	choroid plexus:	n/a
11	chr1:171750281-171750331	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:171750281-171750331	MCF-7	breast:	n/a
13	chr1:171750281-171750331	SK-N-SH	brain:	n/a
14	chr1:171750281-171750331	NHDF-neo	bronchial:	n/a
15	chr1:171750281-171750331	H1-hESC	embryonic stem cell:	embryo
16	chr1:171750281-171750331	HNPCEpiC	eye:	n/a
17	chr1:171750281-171750331	Hepatocyte	liver:	n/a
18	chr1:171750281-171750331	HCF	heart:	n/a
19	chr1:171750281-171750331	GM12892	blood:	n/a
20	chr1:171750281-171750331	HEK293	kidney:	embryo
21	chr1:171750281-171750331	ECC-1	luminal epithelium:	n/a
22	chr1:171750281-171750331	AG10803	skin:	n/a
23	chr1:171750281-171750331	SK-N-MC	brain:	n/a
24	chr1:171750281-171750331	RPTEC	kidney:	n/a
25	chr1:171750281-171750331	GM19239	blood:	n/a
26	chr1:171750281-171750331	BJ	skin:	n/a
27	chr1:171750281-171750331	HCT-116	colon:	n/a
28	chr1:171750281-171750331	ovcar-3	ovarian:	n/a
29	chr1:171750281-171750331	HL-60	blood:	n/a
30	chr1:171750281-171750331	PrEC	prostate:	n/a
31	chr1:171750281-171750331	IMR90	lung:	fetal
32	chr1:171750281-171750331	AG04449	skin:	fetal
33	chr1:171750281-171750331	HEEpiC	esophagus:	n/a
34	chr1:171750281-171750331	T-47D	breast:	n/a
35	chr1:171750281-171750331	AG09319	gingival:	n/a
36	chr1:171750281-171750331	BE2_C	brain:	n/a
37	chr1:171750281-171750331	HUVEC	blood vessel:	n/a
38	chr1:171750281-171750331	SAEC	small airway:	n/a
39	chr1:171750281-171750331	HAEpiC	amniotic membrane:	n/a
40	chr1:171750281-171750331	Caco-2	colon:	n/a
41	chr1:171750281-171750331	A549	lung:	n/a
42	chr1:171750281-171750331	AG09309	skin:	n/a
43	chr1:171750281-171750331	SKMC	muscle:	n/a
44	chr1:171750281-171750331	AoSMC	blood vessel:	n/a
45	chr1:171750281-171750331	NB4	blood:	n/a
46	chr1:171750281-171750331	HCM	heart:	n/a
47	chr1:171750281-171750331	AG04450	lung:	fetal
48	chr1:171750281-171750331	MCF10A-Er-Src	breast:	n/a
49	chr1:171750281-171750331	Hela-S3	cervix:	n/a
50	chr1:171750281-171750331	U87	brain:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171749779..171754190-chr1:171762974..171767849,5	K562	blood:
2	chr1:171710341..171715416-chr1:171748571..171752440,7	MCF-7	breast:
3	chr1:155196799..155197506-chr1:171749732..171750634,2	Hela-S3	cervix:
4	chr1:171750066..171750854-chr11:94822619..94823499,2	HCT-116	colon:
5	chr1:171750001..171750811-chr11:93474122..93474719,2	NB4	blood:
6	chr1:171710046..171714350-chr1:171748592..171750523,6	K562	blood:
7	chr1:171719352..171723049-chr1:171749265..171752646,3	MCF-7	breast:
8	chr1:171735538..171739658-chr1:171748409..171750930,4	MCF-7	breast:
9	chr1:171729687..171733295-chr1:171747531..171751881,5	K562	blood:
10	chr1:171750053..171752040-chr1:171760205..171763597,3	MCF-7	breast:
11	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
12	chr1:171748445..171750403-chr1:173987079..173989780,2	MCF-7	breast:
13	chr1:171728708..171731158-chr1:171748251..171750478,2	MCF-7	breast:
14	chr1:171708496..171713095-chr1:171747641..171752422,13	MCF-7	breast:
15	chr1:171749924..171750607-chr10:105211765..105212634,2	HCT-116	colon:
16	chr1:171734176..171737844-chr1:171748206..171752284,5	K562	blood:
17	chr1:171724145..171725831-chr1:171749285..171750823,2	K562	blood:

No data

Variant related genes	Relation type
METTL13	TF binding region
METTL13	CpG island
ENSG00000160766	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000232261	Chromatin interaction
ENSG00000253060	Chromatin interaction
ENSG00000149218	Chromatin interaction
ENSG00000271459	Chromatin interaction
ENSG00000234699	Chromatin interaction
ENSG00000138172	Chromatin interaction
ENSG00000236741	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000010165	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv1802105	chr1:171749558-171751236	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1802411	chr1:171749665-171751051	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv522889	chr1:171749665-171755071	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171749600-171750400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:171749600-171750400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr1:171749600-171751200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:171749600-171751400	Active TSS	Brain Anterior Caudate	brain
5	chr1:171749600-171751400	Active TSS	Fetal Heart	heart
6	chr1:171749600-171751400	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:171749600-171751600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:171749600-171751600	Active TSS	Brain Substantia Nigra	brain
9	chr1:171749600-171751800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:171749600-171751800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:171749600-171751800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:171749600-171751800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:171749600-171751800	Active TSS	Fetal Kidney	kidney
14	chr1:171749600-171752000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:171749600-171752000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:171749600-171752200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:171749600-171752400	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:171749800-171750400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr1:171749800-171750400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:171749800-171750400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr1:171749800-171750400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:171749800-171750400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr1:171749800-171750400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr1:171749800-171750400	Flanking Active TSS	Osteobl	bone
25	chr1:171749800-171751200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:171749800-171751200	Active TSS	Aorta	Aorta
27	chr1:171749800-171751200	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:171749800-171751400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:171749800-171751400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:171749800-171751600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:171749800-171751600	Active TSS	Fetal Intestine Large	intestine
32	chr1:171749800-171751600	Active TSS	Left Ventricle	heart
33	chr1:171749800-171751600	Active TSS	Ovary	ovary
34	chr1:171749800-171751600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr1:171749800-171751800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:171749800-171751800	Active TSS	Brain Angular Gyrus	brain
37	chr1:171749800-171751800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:171749800-171751800	Active TSS	Colonic Mucosa	Colon
39	chr1:171749800-171751800	Active TSS	Fetal Intestine Small	intestine
40	chr1:171749800-171751800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr1:171749800-171751800	Active TSS	Psoas Muscle	Psoas
42	chr1:171749800-171751800	Active TSS	Right Ventricle	heart
43	chr1:171749800-171751800	Active TSS	HSMM	muscle
44	chr1:171749800-171751800	Active TSS	HSMMtube	muscle
45	chr1:171749800-171751800	Active TSS	NH-A	brain
46	chr1:171749800-171752200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:171749800-171752200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:171749800-171752200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:171749800-171752200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr1:171749800-171752200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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