Variant report

Variant	rs72627082
Chromosome Location	chr3:23958098-23958099
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:228)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:228 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr3:23958095-23958753	H1-hESC	embryonic stem cell:	n/a	chr3:23958465-23958475
2	EP300	chr3:23958064-23959381	A549	lung:	n/a	n/a
3	RUNX3	chr3:23957822-23959408	GM12878	blood:	n/a	n/a
4	EGR1	chr3:23957771-23958119	K562	blood:	n/a	chr3:23957980-23957995
5	ETS1	chr3:23957956-23959417	K562	blood:	n/a	chr3:23958534-23958547 chr3:23958533-23958546 chr3:23958596-23958607
6	YY1	chr3:23958063-23959381	K562	blood:	n/a	chr3:23958483-23958494 chr3:23958485-23958494 chr3:23958491-23958505
7	POLR2A	chr3:23957987-23959405	K562	blood:	n/a	n/a
8	ELK1	chr3:23958050-23959249	K562	blood:	n/a	n/a
9	GTF2F1	chr3:23958020-23959283	Hela-S3	cervix:	n/a	n/a
10	SIX5	chr3:23958037-23959387	A549	lung:	n/a	chr3:23958533-23958547 chr3:23958537-23958546 chr3:23958535-23958544
11	POLR2A	chr3:23958098-23960725	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:23958042-23960224	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr3:23957957-23959395	HepG2	liver:	n/a	n/a
14	GABPA	chr3:23958016-23959458	MCF-7	breast:	n/a	n/a
15	POLR2A	chr3:23957960-23959774	GM12878	blood:	n/a	n/a
16	RAD21	chr3:23957951-23958667	H1-hESC	embryonic stem cell:	n/a	chr3:23958465-23958475 chr3:23958030-23958044
17	SMC3	chr3:23957820-23958909	Hela-S3	cervix:	n/a	chr3:23958465-23958475 chr3:23958514-23958521
18	POLR2A	chr3:23958032-23960247	GM12891	blood:	n/a	n/a
19	CHD1	chr3:23957214-23960192	IMR90	lung:	n/a	n/a
20	POLR2A	chr3:23957643-23960742	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr3:23957917-23960298	Hela-S3	cervix:	n/a	n/a
22	MYC	chr3:23957965-23959701	K562	blood:	n/a	n/a
23	POLR2A	chr3:23958070-23960273	HepG2	liver:	n/a	n/a
24	MAX	chr3:23957973-23959300	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:23957917-23960748	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr3:23958045-23963842	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:23958067-23959351	GM12878	blood:	n/a	n/a
28	RELA	chr3:23957828-23959253	GM18951	blood:	n/a	n/a
29	PAX5	chr3:23957996-23959242	GM12892	blood:	n/a	n/a
30	RCOR1	chr3:23958069-23959062	HepG2	liver:	n/a	n/a
31	MAX	chr3:23957925-23959393	SK-N-SH	brain:	n/a	n/a
32	E2F4	chr3:23958022-23959378	K562	blood:	n/a	chr3:23958468-23958480
33	TBP	chr3:23958093-23959287	HepG2	liver:	n/a	n/a
34	SIN3A	chr3:23957682-23959805	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr3:23958006-23962277	GM12878	blood:	n/a	n/a
36	E2F6	chr3:23957896-23958915	K562	blood:	n/a	chr3:23958468-23958480
37	BCLAF1	chr3:23957912-23959364	K562	blood:	n/a	n/a
38	POLR2A	chr3:23958092-23959415	ECC-1	luminal epithelium:	n/a	n/a
39	E2F6	chr3:23957761-23958984	A549	lung:	n/a	chr3:23958468-23958480
40	HMGN3	chr3:23957961-23959364	K562	blood:	n/a	n/a
41	STAT5A	chr3:23957971-23959454	K562	blood:	n/a	n/a
42	ZNF384	chr3:23957959-23959259	K562	blood:	n/a	n/a
43	TAF1	chr3:23958062-23959377	K562	blood:	n/a	n/a
44	POLR2A	chr3:23957826-23959413	H1-neurons	neurons:	n/a	n/a
45	CREB1	chr3:23958007-23958846	H1-hESC	embryonic stem cell:	n/a	n/a
46	SREBP1	chr3:23957585-23960048	GM12878	blood:	n/a	n/a
47	BACH1	chr3:23957923-23958715	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr3:23957976-23965870	K562	blood:	n/a	n/a
49	POLR2A	chr3:23958037-23960741	U87	brain:	n/a	n/a
50	RUNX3	chr3:23957754-23959327	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:23958075-23958125	AG04449	skin:	fetal
2	chr3:23958075-23958125	BE2_C	brain:	n/a
3	chr3:23958075-23958125	MCF-7	breast:	n/a
4	chr3:23958075-23958125	AG09309	skin:	n/a
5	chr3:23958075-23958125	HRPEpiC	eye:	n/a
6	chr3:23958075-23958125	AG04450	lung:	fetal
7	chr3:23958075-23958125	GM12891	blood:	n/a
8	chr3:23958075-23958125	PFSK-1	brain:	n/a
9	chr3:23958075-23958125	IMR90	lung:	fetal
10	chr3:23958075-23958125	Hela-S3	cervix:	n/a
11	chr3:23958075-23958125	PANC-1	pancreas:	n/a
12	chr3:23958075-23958125	HPAEpiC	pulmonary alveolar:	n/a
13	chr3:23958075-23958125	NH-A	brain:	n/a
14	chr3:23958075-23958125	HCT-116	colon:	n/a
15	chr3:23958075-23958125	HUVEC	blood vessel:	n/a
16	chr3:23958075-23958125	ProgFib	skin:	n/a
17	chr3:23958075-23958125	HEK293	kidney:	embryo
18	chr3:23958075-23958125	ovcar-3	ovarian:	n/a
19	chr3:23958075-23958125	GM06990	blood:	n/a
20	chr3:23958075-23958125	T-47D	breast:	n/a
21	chr3:23958075-23958125	K562	blood:	n/a
22	chr3:23958075-23958125	HRE	kidney:	n/a
23	chr3:23958075-23958125	HL-60	blood:	n/a
24	chr3:23958075-23958125	HCM	heart:	n/a
25	chr3:23958075-23958125	HCPEpiC	choroid plexus:	n/a
26	chr3:23958075-23958125	HAEpiC	amniotic membrane:	n/a
27	chr3:23958075-23958125	H1-hESC	embryonic stem cell:	embryo
28	chr3:23958075-23958125	HRCEpiC	kidney:	n/a
29	chr3:23958075-23958125	HNPCEpiC	eye:	n/a
30	chr3:23958075-23958125	U87	brain:	n/a
31	chr3:23958075-23958125	HMEC	breast:	n/a
32	chr3:23958075-23958125	HepG2	liver:	n/a
33	chr3:23958075-23958125	Jurkat	blood:	n/a
34	chr3:23958075-23958125	NHDF-neo	bronchial:	n/a
35	chr3:23958075-23958125	SAEC	small airway:	n/a
36	chr3:23958075-23958125	SK-N-SH	brain:	n/a
37	chr3:23958075-23958125	RPTEC	kidney:	n/a
38	chr3:23958075-23958125	AG09319	gingival:	n/a
39	chr3:23958075-23958125	GM12878	blood:	n/a
40	chr3:23958075-23958125	NHBE	bronchial:	n/a
41	chr3:23958075-23958125	Hepatocyte	liver:	n/a
42	chr3:23958075-23958125	HEEpiC	esophagus:	n/a
43	chr3:23958075-23958125	SKMC	muscle:	n/a
44	chr3:23958075-23958125	NB4	blood:	n/a
45	chr3:23958075-23958125	HIPEpiC	eye:	n/a
46	chr3:23958075-23958125	AG10803	skin:	n/a
47	chr3:23958075-23958125	GM12892	blood:	n/a
48	chr3:23958075-23958125	NT2-D1	testis:	n/a
49	chr3:23958075-23958125	A549	lung:	n/a
50	chr3:23958075-23958125	ECC-1	luminal epithelium:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23956587..23958412-chr3:24004653..24006341,2	K562	blood:
2	chr3:23956507..23958836-chr3:25705831..25708315,2	K562	blood:
3	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
4	chr3:23850301..23853237-chr3:23957517..23960615,4	MCF-7	breast:
5	chr17:58167241..58170093-chr3:23957521..23960210,2	MCF-7	breast:
6	chr3:23958025..23958690-chrX:77166038..77167009,2	Hela-S3	cervix:
7	chr3:23957476..23960072-chr3:25467685..25470119,2	K562	blood:
8	chr21:35287562..35288218-chr3:23957907..23958438,2	MCF-7	breast:
9	chr2:96068327..96068925-chr3:23957909..23958508,2	Hela-S3	cervix:
10	chr3:23956080..23959048-chr3:23995915..23997492,2	MCF-7	breast:
11	chr1:203059673..203062550-chr3:23957552..23960185,2	MCF-7	breast:
12	chr3:23852479..23855481-chr3:23956917..23960502,4	MCF-7	breast:
13	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
14	chr3:23957534..23959919-chr3:25823926..25825755,2	K562	blood:
15	chr3:23848988..23853074-chr3:23957156..23960234,5	K562	blood:
16	chr3:23845112..23848622-chr3:23958029..23961906,4	K562	blood:
17	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
18	chr3:23957572..23960051-chr3:23995970..23999234,5	MCF-7	breast:

No data

Variant related genes	Relation type
RPL15	TF binding region
RPL15	CpG island
ENSG00000170142	Chromatin interaction
ENSG00000151092	Chromatin interaction
ENSG00000223791	Chromatin interaction
ENSG00000248503	Chromatin interaction
ENSG00000237945	Chromatin interaction
ENSG00000077097	Chromatin interaction
ENSG00000264219	Chromatin interaction
ENSG00000261040	Chromatin interaction
ENSG00000165240	Chromatin interaction
ENSG00000077092	Chromatin interaction
ENSG00000115042	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000241837	Chromatin interaction
ENSG00000163485	Chromatin interaction
ENSG00000151093	Chromatin interaction
ENSG00000197885	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs13317815	0.87[ASN][1000 genomes]
rs13321439	0.87[ASN][1000 genomes]
rs13321440	0.87[ASN][1000 genomes]
rs2360020	1.00[ASN][1000 genomes]
rs34593533	0.87[ASN][1000 genomes]
rs35457462	0.90[ASN][1000 genomes]
rs4132595	0.93[ASN][1000 genomes]
rs61732090	1.00[AFR][1000 genomes]
rs6770052	0.87[ASN][1000 genomes]
rs6778577	0.87[ASN][1000 genomes]
rs6803587	0.87[ASN][1000 genomes]
rs72627025	0.81[ASN][1000 genomes]
rs72627026	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72627027	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72627028	0.93[ASN][1000 genomes]
rs72627029	0.93[ASN][1000 genomes]
rs72627030	0.93[ASN][1000 genomes]
rs72627031	0.93[ASN][1000 genomes]
rs72627032	0.93[ASN][1000 genomes]
rs72627033	0.93[ASN][1000 genomes]
rs72627034	0.93[ASN][1000 genomes]
rs72627035	0.93[ASN][1000 genomes]
rs72627036	0.93[ASN][1000 genomes]
rs72627037	0.93[ASN][1000 genomes]
rs72627038	0.93[ASN][1000 genomes]
rs72627039	0.93[ASN][1000 genomes]
rs72627040	0.93[ASN][1000 genomes]
rs72627041	0.81[ASN][1000 genomes]
rs72627042	0.90[ASN][1000 genomes]
rs72627043	0.93[ASN][1000 genomes]
rs72627044	1.00[ASN][1000 genomes]
rs72627045	0.85[ASN][1000 genomes]
rs72627046	1.00[ASN][1000 genomes]
rs72627047	0.96[ASN][1000 genomes]
rs72627048	0.96[ASN][1000 genomes]
rs72627049	0.96[ASN][1000 genomes]
rs72627050	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72627051	1.00[ASN][1000 genomes]
rs72627052	1.00[ASN][1000 genomes]
rs72627053	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627055	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627056	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627057	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627058	1.00[ASN][1000 genomes]
rs72627059	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627060	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627061	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627062	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627063	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627064	1.00[ASN][1000 genomes]
rs72627065	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627067	1.00[ASN][1000 genomes]
rs72627068	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627069	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627070	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627071	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627072	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627073	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627074	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627075	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627076	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627077	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72627078	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72627079	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627080	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72627081	1.00[ASN][1000 genomes]
rs72627083	1.00[ASN][1000 genomes]
rs72627084	1.00[ASN][1000 genomes]
rs72627085	1.00[ASN][1000 genomes]
rs72627086	1.00[ASN][1000 genomes]
rs72627087	1.00[ASN][1000 genomes]
rs72627088	1.00[ASN][1000 genomes]
rs72627089	1.00[ASN][1000 genomes]
rs72627090	1.00[ASN][1000 genomes]
rs72627091	0.96[ASN][1000 genomes]
rs72627096	0.90[ASN][1000 genomes]
rs72627097	0.90[ASN][1000 genomes]
rs72627098	0.90[ASN][1000 genomes]
rs72627099	0.90[ASN][1000 genomes]
rs72627100	0.83[ASN][1000 genomes]
rs72627101	0.83[ASN][1000 genomes]
rs72627102	0.83[ASN][1000 genomes]
rs72628103	0.83[ASN][1000 genomes]
rs72628104	0.83[ASN][1000 genomes]
rs72628105	0.83[ASN][1000 genomes]
rs72628106	0.83[ASN][1000 genomes]
rs72628107	0.83[ASN][1000 genomes]
rs72628108	0.83[ASN][1000 genomes]
rs72628109	0.83[ASN][1000 genomes]
rs72628111	0.83[ASN][1000 genomes]
rs72628126	0.80[ASN][1000 genomes]
rs9817923	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 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	chr3:23956400-23958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:23956600-23958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:23956800-23959200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:23956800-23959400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:23956800-23959400	Active TSS	Brain Angular Gyrus	brain
6	chr3:23957000-23958200	Flanking Active TSS	HMEC	breast
7	chr3:23957000-23958200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr3:23957000-23959400	Active TSS	Colon Smooth Muscle	Colon
9	chr3:23957000-23959600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr3:23957000-23959600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr3:23957000-23959600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:23957000-23960400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:23957000-23960600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:23957000-23960600	Active TSS	Right Atrium	heart
15	chr3:23957200-23958200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr3:23957200-23958200	Flanking Active TSS	HUVEC	blood vessel
17	chr3:23957200-23959400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:23957200-23959600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:23957200-23959600	Active TSS	Stomach Smooth Muscle	stomach
20	chr3:23957200-23959600	Active TSS	HSMMtube	muscle
21	chr3:23957200-23960200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:23957200-23960800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:23957400-23958200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr3:23957400-23958200	Bivalent/Poised TSS	Thymus	Thymus
25	chr3:23957400-23958800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr3:23957400-23959000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:23957400-23959200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr3:23957400-23959400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:23957400-23959400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:23957400-23959400	Active TSS	HSMM	muscle
31	chr3:23957400-23959600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:23957400-23959600	Active TSS	Brain Anterior Caudate	brain
33	chr3:23957400-23959600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:23957400-23959600	Active TSS	Fetal Stomach	stomach
35	chr3:23957400-23959600	Active TSS	Left Ventricle	heart
36	chr3:23957400-23959600	Active TSS	Rectal Smooth Muscle	rectum
37	chr3:23957400-23959600	Active TSS	GM12878-XiMat	blood
38	chr3:23957400-23959600	Active TSS	NHDF-Ad	bronchial
39	chr3:23957400-23959800	Active TSS	Ovary	ovary
40	chr3:23957400-23960800	Active TSS	Psoas Muscle	Psoas
41	chr3:23957400-23960800	Active TSS	Right Ventricle	heart
42	chr3:23957600-23958200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr3:23957600-23958200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:23957600-23958400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:23957600-23958400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:23957600-23958600	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr3:23957600-23958800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr3:23957600-23958800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:23957600-23958800	Active TSS	Brain Germinal Matrix	brain
50	chr3:23957600-23959200	Active TSS	NHEK	skin

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