Variant report

Variant	rs1625821
Chromosome Location	chr1:155829140-155829141
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:184)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:184 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:155828858-155830514	GM12878	blood:	n/a	n/a
2	TBP	chr1:155828802-155829258	Hela-S3	cervix:	n/a	n/a
3	SP1	chr1:155828861-155829351	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr1:155828948-155829451	GM12878	blood:	n/a	n/a
5	CTCF	chr1:155829080-155829230	SK-N-SH_RA	brain:	n/a	n/a
6	CEBPB	chr1:155829050-155829791	MCF-7	breast:	n/a	n/a
7	SPI1	chr1:155829059-155829322	HL-60	blood:	n/a	n/a
8	ELF1	chr1:155828935-155829482	K562	blood:	n/a	chr1:155829213-155829226
9	CTCF	chr1:155829060-155829210	GM12875	blood:	n/a	n/a
10	ZNF384	chr1:155828194-155829192	K562	blood:	n/a	n/a
11	NR2F2	chr1:155828677-155829542	K562	blood:	n/a	n/a
12	SPI1	chr1:155828992-155829349	GM12878	blood:	n/a	n/a
13	STAT3	chr1:155828863-155829360	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr1:155829090-155829236	Kidney_OC	kidney:	n/a	n/a
15	POLR2A	chr1:155828931-155829209	HepG2	liver:	n/a	n/a
16	GTF3C2	chr1:155828250-155829160	Hela-S3	cervix:	n/a	n/a
17	TAF1	chr1:155828935-155829465	SK-N-SH	brain:	n/a	n/a
18	ELK4	chr1:155828954-155829418	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr1:155829140-155829290	HVMF	connective:	n/a	n/a
20	ELK1	chr1:155829055-155829448	Hela-S3	cervix:	n/a	n/a
21	SPI1	chr1:155829062-155829326	K562	blood:	n/a	n/a
22	ZNF384	chr1:155828085-155829223	GM12878	blood:	n/a	n/a
23	JUN	chr1:155828448-155831227	K562	blood:	n/a	chr1:155830459-155830472 chr1:155829792-155829803
24	REST	chr1:155828738-155831562	H1-neurons	neurons:	n/a	chr1:155830066-155830079 chr1:155829006-155829020 chr1:155830399-155830412
25	ELF1	chr1:155828947-155829494	SK-N-SH	brain:	n/a	chr1:155829213-155829226
26	EGR1	chr1:155829016-155829310	K562	blood:	n/a	chr1:155829133-155829143
27	SPI1	chr1:155829029-155829378	GM12891	blood:	n/a	n/a
28	SMC3	chr1:155828985-155829270	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:155828926-155829328	Hela-S3	cervix:	n/a	n/a
30	GABPA	chr1:155829084-155829312	HepG2	liver:	n/a	n/a
31	STAT5A	chr1:155828806-155830621	GM12878	blood:	n/a	chr1:155829998-155830010 chr1:155829965-155829977 chr1:155829969-155829981
32	HEY1	chr1:155828930-155829153	K562	blood:	n/a	n/a
33	POLR2A	chr1:155828760-155830864	U87	brain:	n/a	n/a
34	POLR2A	chr1:155828731-155829203	GM12878	blood:	n/a	n/a
35	IRF1	chr1:155828956-155829519	K562	blood:	n/a	chr1:155828977-155828994 chr1:155829102-155829113 chr1:155829045-155829057 chr1:155829046-155829056
36	FOS	chr1:155828774-155829291	MCF10A-Er-Src	breast:	n/a	n/a
37	CTCF	chr1:155829120-155829270	BJ	skin:	n/a	n/a
38	POLR2A	chr1:155828867-155829244	HCT-116	colon:	n/a	n/a
39	POLR2A	chr1:155829078-155831211	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:155829005-155829141	MCF-7	breast:	n/a	n/a
41	ZKSCAN1	chr1:155828954-155829410	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr1:155829098-155829306	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr1:155829080-155829230	GM12868	blood:	n/a	n/a
44	MAZ	chr1:155828769-155830972	IMR90	lung:	n/a	n/a
45	BACH1	chr1:155828954-155829215	H1-hESC	embryonic stem cell:	n/a	n/a
46	ELF1	chr1:155828951-155829460	HepG2	liver:	n/a	chr1:155829213-155829226
47	ELF1	chr1:155828744-155829604	HCT-116	colon:	n/a	chr1:155829213-155829226
48	GABPA	chr1:155829072-155829370	HepG2	liver:	n/a	n/a
49	ATF2	chr1:155828867-155829402	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:155829054-155830756	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155829126-155829176	HMEC	breast:	n/a
2	chr1:155829126-155829176	GM12891	blood:	n/a
3	chr1:155829126-155829176	HL-60	blood:	n/a
4	chr1:155829126-155829176	HCM	heart:	n/a
5	chr1:155829126-155829176	GM06990	blood:	n/a
6	chr1:155829126-155829176	NB4	blood:	n/a
7	chr1:155829126-155829176	AG10803	skin:	n/a
8	chr1:155829126-155829176	K562	blood:	n/a
9	chr1:155829126-155829176	LNCaP	prostate:	n/a
10	chr1:155829126-155829176	HAEpiC	amniotic membrane:	n/a
11	chr1:155829126-155829176	HEEpiC	esophagus:	n/a
12	chr1:155829126-155829176	SK-N-SH	brain:	n/a
13	chr1:155829126-155829176	RPTEC	kidney:	n/a
14	chr1:155829126-155829176	Jurkat	blood:	n/a
15	chr1:155829126-155829176	HRPEpiC	eye:	n/a
16	chr1:155829126-155829176	Hela-S3	cervix:	n/a
17	chr1:155829126-155829176	SAEC	small airway:	n/a
18	chr1:155829126-155829176	SK-N-SH_RA	brain:	n/a
19	chr1:155829126-155829176	NT2-D1	testis:	n/a
20	chr1:155829126-155829176	SKMC	muscle:	n/a
21	chr1:155829126-155829176	GM12892	blood:	n/a
22	chr1:155829126-155829176	GM12878	blood:	n/a
23	chr1:155829126-155829176	HNPCEpiC	eye:	n/a
24	chr1:155829126-155829176	HepG2	liver:	n/a
25	chr1:155829126-155829176	Hepatocyte	liver:	n/a
26	chr1:155829126-155829176	SK-N-MC	brain:	n/a
27	chr1:155829126-155829176	HUVEC	blood vessel:	n/a
28	chr1:155829126-155829176	PrEC	prostate:	n/a
29	chr1:155829126-155829176	ProgFib	skin:	n/a
30	chr1:155829126-155829176	AoSMC	blood vessel:	n/a
31	chr1:155829126-155829176	IMR90	lung:	fetal
32	chr1:155829126-155829176	ECC-1	luminal epithelium:	n/a
33	chr1:155829126-155829176	MCF-7	breast:	n/a
34	chr1:155829126-155829176	AG09309	skin:	n/a
35	chr1:155829126-155829176	HRCEpiC	kidney:	n/a
36	chr1:155829126-155829176	HRE	kidney:	n/a
37	chr1:155829126-155829176	CMK	blood:	n/a
38	chr1:155829126-155829176	NHBE	bronchial:	n/a
39	chr1:155829126-155829176	U87	brain:	n/a
40	chr1:155829126-155829176	BJ	skin:	n/a
41	chr1:155829126-155829176	H1-hESC	embryonic stem cell:	embryo
42	chr1:155829126-155829176	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:155829126-155829176	AG09319	gingival:	n/a
44	chr1:155829126-155829176	T-47D	breast:	n/a
45	chr1:155829126-155829176	AG04449	skin:	fetal
46	chr1:155829126-155829176	PFSK-1	brain:	n/a
47	chr1:155829126-155829176	NHDF-neo	bronchial:	n/a
48	chr1:155829126-155829176	ovcar-3	ovarian:	n/a
49	chr1:155829126-155829176	Caco-2	colon:	n/a
50	chr1:155829126-155829176	HIPEpiC	eye:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155823442..155829143-chr1:155879989..155882670,6	MCF-7	breast:
2	chr1:155821549..155823556-chr1:155827690..155829206,2	K562	blood:
3	chr1:155828536..155830676-chr1:155863027..155864768,2	MCF-7	breast:
4	chr1:155825653..155829252-chr1:155877943..155882760,5	MCF-7	breast:
5	chr1:155824896..155829386-chr1:155902844..155905236,4	MCF-7	breast:
6	chr1:155827720..155829517-chr1:156180623..156183701,3	K562	blood:
7	chr1:155813223..155816752-chr1:155827638..155829227,3	K562	blood:
8	chr1:155825368..155829605-chr1:155879516..155883021,7	K562	blood:
9	chr1:155825171..155830547-chr1:155878470..155884979,12	K562	blood:
10	chr1:155827023..155830284-chr1:156022724..156025393,4	K562	blood:
11	chr1:155713796..155716545-chr1:155826802..155829458,2	K562	blood:

No data

Variant related genes	Relation type
GON4L	TF binding region
SYT11	TF binding region
GON4L	CpG island
SYT11	CpG island
ENSG00000160783	Chromatin interaction
ENSG00000116586	Chromatin interaction
ENSG00000160803	Chromatin interaction
ENSG00000116580	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000201614	Chromatin interaction
ENSG00000143622	Chromatin interaction
ENSG00000203761	Chromatin interaction
ENSG00000234937	Chromatin interaction
ENSG00000260238	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10796952	0.89[AMR][1000 genomes]
rs1627630	1.00[AMR][1000 genomes]
rs168343	1.00[AMR][1000 genomes]
rs171168	1.00[AMR][1000 genomes]
rs1749412	1.00[AMR][1000 genomes]
rs1749413	1.00[AMR][1000 genomes]
rs1749414	1.00[AMR][1000 genomes]
rs1749420	1.00[AMR][1000 genomes]
rs1749422	1.00[AMR][1000 genomes]
rs1756242	1.00[AMR][1000 genomes]
rs1765281	0.86[AFR][1000 genomes]
rs1886618	1.00[AMR][1000 genomes]
rs2136920	1.00[AMR][1000 genomes]
rs2175389	1.00[AMR][1000 genomes]
rs2363017	1.00[AMR][1000 genomes]
rs2485472	1.00[AMR][1000 genomes]
rs2666828	0.89[AMR][1000 genomes]
rs2686264	0.89[AMR][1000 genomes]
rs2885676	1.00[AMR][1000 genomes]
rs2988999	0.89[AMR][1000 genomes]
rs348184	1.00[AMR][1000 genomes]
rs348188	0.89[AMR][1000 genomes]
rs348189	0.89[AMR][1000 genomes]
rs348191	1.00[AMR][1000 genomes]
rs348193	0.89[AMR][1000 genomes]
rs348197	1.00[AMR][1000 genomes]
rs348199	1.00[AMR][1000 genomes]
rs348200	1.00[AMR][1000 genomes]
rs348207	1.00[AMR][1000 genomes]
rs348208	1.00[AMR][1000 genomes]
rs348209	1.00[AMR][1000 genomes]
rs35264557	0.89[AMR][1000 genomes]
rs4581273	1.00[AMR][1000 genomes]
rs492669	0.89[AMR][1000 genomes]
rs4971058	0.89[AMR][1000 genomes]
rs512551	1.00[AMR][1000 genomes]
rs540380	1.00[AMR][1000 genomes]
rs568672	1.00[AMR][1000 genomes]
rs606755	1.00[AMR][1000 genomes]
rs607036	0.89[AMR][1000 genomes]
rs617232	0.89[AMR][1000 genomes]
rs6688399	1.00[AMR][1000 genomes]
rs670787	0.89[AMR][1000 genomes]
rs708607	1.00[AMR][1000 genomes]
rs708609	1.00[AMR][1000 genomes]
rs708613	0.89[AMR][1000 genomes]
rs8179457	1.00[AMR][1000 genomes]
rs822013	1.00[AMR][1000 genomes]
rs822014	1.00[AMR][1000 genomes]
rs822017	1.00[AMR][1000 genomes]
rs822021	1.00[AMR][1000 genomes]
rs822023	1.00[AMR][1000 genomes]
rs822024	1.00[AMR][1000 genomes]
rs822027	1.00[AMR][1000 genomes]
rs822479	1.00[AMR][1000 genomes]
rs822481	1.00[AMR][1000 genomes]
rs822483	1.00[AMR][1000 genomes]
rs822485	1.00[AMR][1000 genomes]
rs822492	1.00[AMR][1000 genomes]
rs822496	0.89[AMR][1000 genomes]
rs822498	1.00[AMR][1000 genomes]
rs822520	0.88[AFR][1000 genomes]
rs822522	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs866603	1.00[AMR][1000 genomes]
rs9427219	0.89[AMR][1000 genomes]
rs9427222	1.00[AMR][1000 genomes]
rs9427227	1.00[AMR][1000 genomes]
rs9427229	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 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	chr1:155826400-155829600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:155826600-155829400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:155827000-155829200	Weak transcription	Spleen	Spleen
4	chr1:155827000-155829400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:155827000-155829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155827000-155829400	Weak transcription	Lung	lung
7	chr1:155827200-155829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:155827200-155829400	Weak transcription	Gastric	stomach
9	chr1:155827200-155829600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:155827200-155829800	Flanking Active TSS	Dnd41	blood
11	chr1:155827400-155829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:155828000-155829200	Active TSS	K562	blood
13	chr1:155828000-155829600	Active TSS	HepG2	liver
14	chr1:155828200-155829600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:155828200-155830400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr1:155828400-155829400	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:155828400-155829400	Active TSS	A549	lung
18	chr1:155828400-155829400	Active TSS	GM12878-XiMat	blood
19	chr1:155828400-155829400	Active TSS	HSMM	muscle
20	chr1:155828400-155829400	Active TSS	NHDF-Ad	bronchial
21	chr1:155828400-155829600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:155828400-155830600	Active TSS	Psoas Muscle	Psoas
23	chr1:155828400-155831000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:155828600-155829200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:155828600-155829200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:155828600-155829200	Active TSS	HMEC	breast
27	chr1:155828600-155829200	Active TSS	NHEK	skin
28	chr1:155828600-155829400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:155828600-155829400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:155828600-155829400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:155828600-155829400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:155828600-155829400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:155828600-155829400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:155828600-155829400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:155828600-155829400	Active TSS	Brain Germinal Matrix	brain
36	chr1:155828600-155829400	Active TSS	Duodenum Mucosa	Duodenum
37	chr1:155828600-155829400	Active TSS	Fetal Brain Female	brain
38	chr1:155828600-155829400	Active TSS	Right Ventricle	heart
39	chr1:155828600-155829400	Active TSS	HSMMtube	muscle
40	chr1:155828600-155829600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:155828600-155829600	Active TSS	Ovary	ovary
42	chr1:155828600-155829600	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr1:155828600-155830000	Active TSS	Thymus	Thymus
44	chr1:155828600-155830200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr1:155828600-155830600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:155828600-155830600	Active TSS	Brain Anterior Caudate	brain
47	chr1:155828600-155830600	Active TSS	Brain Hippocampus Middle	brain
48	chr1:155828600-155830600	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:155828600-155830800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:155828600-155830800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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