Variant report

Variant	rs61485328
Chromosome Location	chr1:76252439-76252440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:76249993-76263987	K562	blood:	n/a	n/a
2	PML	chr1:76251098-76252684	K562	blood:	n/a	n/a
3	ZNF143	chr1:76251026-76252824	K562	blood:	n/a	n/a
4	BCLAF1	chr1:76251314-76252604	K562	blood:	n/a	chr1:76252354-76252363
5	MYC	chr1:76250037-76254057	K562	blood:	n/a	chr1:76250221-76250231
6	ZNF384	chr1:76251491-76252497	K562	blood:	n/a	n/a
7	POLR2A	chr1:76250352-76252499	HCT-116	colon:	n/a	n/a
8	CHD2	chr1:76251655-76252555	GM12878	blood:	n/a	n/a
9	GATA2	chr1:76250970-76252516	SH-SY5Y	brain:	n/a	chr1:76251865-76251874 chr1:76252359-76252372
10	TBP	chr1:76251350-76252806	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:76251046-76252580	GM12892	blood:	n/a	n/a
12	MYC	chr1:76251387-76252551	NB4	blood:	n/a	n/a
13	IRF1	chr1:76250035-76253994	K562	blood:	n/a	chr1:76250222-76250236
14	POLR2A	chr1:76250010-76263479	K562	blood:	n/a	n/a
15	MXI1	chr1:76251277-76252577	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:76250262-76252896	HCT-116	colon:	n/a	n/a
17	POLR2A	chr1:76250991-76264029	PFSK-1	brain:	n/a	n/a
18	ELF1	chr1:76251657-76252509	K562	blood:	n/a	chr1:76252354-76252365 chr1:76252355-76252364 chr1:76252354-76252365
19	POLR2A	chr1:76250301-76252545	GM12878	blood:	n/a	n/a
20	ELK1	chr1:76251725-76253119	K562	blood:	n/a	chr1:76252354-76252363 chr1:76252354-76252363
21	TBL1XR1	chr1:76251321-76252458	K562	blood:	n/a	n/a
22	SIN3AK20	chr1:76251380-76252487	HCT-116	colon:	n/a	n/a
23	BCLAF1	chr1:76251584-76252565	GM12878	blood:	n/a	chr1:76252354-76252363
24	MAX	chr1:76251353-76252495	K562	blood:	n/a	n/a
25	POLR2A	chr1:76250033-76264125	K562	blood:	n/a	n/a
26	POLR2A	chr1:76251183-76253574	K562	blood:	n/a	n/a
27	MYC	chr1:76249968-76252912	K562	blood:	n/a	chr1:76250221-76250231
28	POLR2A	chr1:76251073-76257428	HepG2	liver:	n/a	n/a
29	NR2F2	chr1:76251307-76252521	K562	blood:	n/a	n/a
30	MAX	chr1:76251191-76252573	K562	blood:	n/a	n/a
31	CEBPD	chr1:76251290-76252493	K562	blood:	n/a	n/a
32	EP300	chr1:76250272-76252716	GM12878	blood:	n/a	chr1:76252355-76252362
33	POLR2A	chr1:76251238-76252629	GM12891	blood:	n/a	n/a
34	MAX	chr1:76251243-76252539	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:76251198-76257365	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr1:76250173-76253604	GM19193	blood:	n/a	n/a
37	USF1	chr1:76252217-76252566	K562	blood:	n/a	chr1:76252439-76252450
38	CTCF	chr1:76251524-76252649	K562	blood:	n/a	n/a
39	MYBL2	chr1:76251414-76252609	HepG2	liver:	n/a	n/a
40	POLR2A	chr1:76251042-76257307	U87	brain:	n/a	n/a
41	POLR2A	chr1:76251521-76253603	IMR90	lung:	n/a	n/a
42	STAT3	chr1:76251625-76252496	Hela-S3	cervix:	n/a	chr1:76252351-76252371
43	USF1	chr1:76252311-76252519	HepG2	liver:	n/a	chr1:76252439-76252450
44	FOXM1	chr1:76251500-76252474	GM12878	blood:	n/a	n/a
45	PML	chr1:76250116-76253155	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:76250200-76254234	GM12878	blood:	n/a	n/a
47	BHLHE40	chr1:76251499-76252706	K562	blood:	n/a	n/a
48	POLR2A	chr1:76251163-76252594	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:76251176-76252596	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr1:76250130-76254424	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:76252438-76252488	SK-N-SH_RA	brain:	n/a
2	chr1:76252438-76252488	NHBE	bronchial:	n/a
3	chr1:76252438-76252488	HCT-116	colon:	n/a
4	chr1:76252438-76252488	BJ	skin:	n/a
5	chr1:76252438-76252488	HAEpiC	amniotic membrane:	n/a
6	chr1:76252438-76252488	HCF	heart:	n/a
7	chr1:76252438-76252488	AG10803	skin:	n/a
8	chr1:76252438-76252488	NB4	blood:	n/a
9	chr1:76252438-76252488	SK-N-SH	brain:	n/a
10	chr1:76252438-76252488	HIPEpiC	eye:	n/a
11	chr1:76252438-76252488	SKMC	muscle:	n/a
12	chr1:76252438-76252488	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:76252438-76252488	HL-60	blood:	n/a
14	chr1:76252438-76252488	PFSK-1	brain:	n/a
15	chr1:76252438-76252488	RPTEC	kidney:	n/a
16	chr1:76252438-76252488	Hela-S3	cervix:	n/a
17	chr1:76252438-76252488	NH-A	brain:	n/a
18	chr1:76252438-76252488	ProgFib	skin:	n/a
19	chr1:76252438-76252488	NT2-D1	testis:	n/a
20	chr1:76252438-76252488	AG04450	lung:	fetal
21	chr1:76252438-76252488	AG09309	skin:	n/a
22	chr1:76252438-76252488	GM19239	blood:	n/a
23	chr1:76252438-76252488	ECC-1	luminal epithelium:	n/a
24	chr1:76252438-76252488	U87	brain:	n/a
25	chr1:76252438-76252488	IMR90	lung:	fetal
26	chr1:76252438-76252488	HepG2	liver:	n/a
27	chr1:76252438-76252488	MCF10A-Er-Src	breast:	n/a
28	chr1:76252438-76252488	HCM	heart:	n/a
29	chr1:76252438-76252488	SK-N-MC	brain:	n/a
30	chr1:76252438-76252488	LNCaP	prostate:	n/a
31	chr1:76252438-76252488	PrEC	prostate:	n/a
32	chr1:76252438-76252488	HCPEpiC	choroid plexus:	n/a
33	chr1:76252438-76252488	AoSMC	blood vessel:	n/a
34	chr1:76252438-76252488	K562	blood:	n/a
35	chr1:76252438-76252488	NHDF-neo	bronchial:	n/a
36	chr1:76252438-76252488	ovcar-3	ovarian:	n/a
37	chr1:76252438-76252488	HRCEpiC	kidney:	n/a
38	chr1:76252438-76252488	T-47D	breast:	n/a
39	chr1:76252438-76252488	H1-hESC	embryonic stem cell:	embryo
40	chr1:76252438-76252488	GM12891	blood:	n/a
41	chr1:76252438-76252488	GM06990	blood:	n/a
42	chr1:76252438-76252488	HMEC	breast:	n/a
43	chr1:76252438-76252488	CMK	blood:	n/a
44	chr1:76252438-76252488	GM12878	blood:	n/a
45	chr1:76252438-76252488	HEEpiC	esophagus:	n/a
46	chr1:76252438-76252488	HNPCEpiC	eye:	n/a
47	chr1:76252438-76252488	Jurkat	blood:	n/a
48	chr1:76252438-76252488	HRPEpiC	eye:	n/a
49	chr1:76252438-76252488	Hepatocyte	liver:	n/a
50	chr1:76252438-76252488	Caco-2	colon:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76251676..76252625-chr15:72523942..72524487,2	Hela-S3	cervix:
2	chr1:76190185..76192141-chr1:76251658..76253401,2	MCF-7	breast:
3	chr1:76251477..76252459-chr5:172571057..172571755,2	HCT-116	colon:
4	chr1:76252156..76254487-chr1:76258379..76261694,3	MCF-7	breast:
5	chr1:76188658..76192178-chr1:76249968..76253902,5	MCF-7	breast:
6	chr1:76186306..76195796-chr1:76248732..76266552,73	K562	blood:
7	chr1:76187424..76195796-chr1:76248839..76258922,52	K562	blood:
8	chr1:76195849..76201919-chr1:76251987..76255873,8	K562	blood:
9	chr1:76251016..76253217-chr1:78469296..78471512,3	K562	blood:
10	chr1:75200664..75203474-chr1:76250808..76253106,2	K562	blood:

No data

Variant related genes	Relation type
SNORD45A	TF binding region
RABGGTB	TF binding region
SNORD45C	TF binding region
SNORD45B	TF binding region
SNORD45B	CpG island
SNORD45A	CpG island
SNORD45C	CpG island
RABGGTB	CpG island
ENSG00000178193	Chromatin interaction
ENSG00000113734	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000162623	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56799454	1.00[AMR][1000 genomes]
rs5745330	1.00[AMR][1000 genomes]
rs5745345	1.00[AMR][1000 genomes]
rs5745350	1.00[AMR][1000 genomes]
rs5745358	1.00[AMR][1000 genomes]
rs5745439	1.00[AMR][1000 genomes]
rs57993860	1.00[AMR][1000 genomes]
rs58285034	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58487907	1.00[AMR][1000 genomes]
rs59163517	1.00[AMR][1000 genomes]
rs60005977	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:76249600-76253200	Active TSS	GM12878-XiMat	blood
2	chr1:76250200-76253200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:76250400-76253800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:76250400-76254800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr1:76250600-76252800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:76250800-76254000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:76251000-76252600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:76251000-76252800	Active TSS	Brain Anterior Caudate	brain
9	chr1:76251000-76252800	Active TSS	Brain Hippocampus Middle	brain
10	chr1:76251000-76252800	Active TSS	Stomach Smooth Muscle	stomach
11	chr1:76251000-76253000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:76251000-76253000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:76251000-76253600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:76251000-76253800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:76251000-76254000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:76251000-76254000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:76251000-76255200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:76251000-76255400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:76251200-76252800	Active TSS	Brain Germinal Matrix	brain
20	chr1:76251200-76252800	Active TSS	Brain Substantia Nigra	brain
21	chr1:76251200-76252800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr1:76251200-76252800	Active TSS	Fetal Lung	lung
23	chr1:76251200-76252800	Active TSS	Rectal Smooth Muscle	rectum
24	chr1:76251200-76253000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:76251200-76253000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:76251200-76253000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:76251200-76253000	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:76251200-76253000	Active TSS	Colonic Mucosa	Colon
29	chr1:76251200-76253000	Active TSS	Colon Smooth Muscle	Colon
30	chr1:76251200-76253000	Active TSS	Fetal Kidney	kidney
31	chr1:76251200-76253000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr1:76251200-76253000	Active TSS	HSMM	muscle
33	chr1:76251200-76253000	Active TSS	Osteobl	bone
34	chr1:76251200-76253200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:76251200-76253200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:76251200-76253200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:76251200-76253200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:76251200-76253200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:76251200-76253200	Active TSS	Thymus	Thymus
40	chr1:76251200-76253200	Active TSS	NH-A	brain
41	chr1:76251200-76253400	Active TSS	Brain Angular Gyrus	brain
42	chr1:76251200-76253400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:76251200-76253400	Active TSS	Esophagus	oesophagus
44	chr1:76251200-76253400	Active TSS	Fetal Muscle Trunk	muscle
45	chr1:76251200-76253400	Active TSS	Left Ventricle	heart
46	chr1:76251200-76253400	Active TSS	NHDF-Ad	bronchial
47	chr1:76251200-76253800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:76251200-76253800	Active TSS	Fetal Intestine Small	intestine
49	chr1:76251200-76253800	Active TSS	Fetal Stomach	stomach
50	chr1:76251200-76253800	Active TSS	HSMMtube	muscle

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