Variant report

Variant	rs72627081
Chromosome Location	chr3:23957994-23957995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:183)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr3:23957822-23959408	GM12878	blood:	n/a	n/a
2	EGR1	chr3:23957771-23958119	K562	blood:	n/a	chr3:23957980-23957995
3	ETS1	chr3:23957956-23959417	K562	blood:	n/a	chr3:23958534-23958547 chr3:23958533-23958546 chr3:23958596-23958607
4	POLR2A	chr3:23957987-23959405	K562	blood:	n/a	n/a
5	CREB1	chr3:23957957-23959395	HepG2	liver:	n/a	n/a
6	POLR2A	chr3:23957960-23959774	GM12878	blood:	n/a	n/a
7	RAD21	chr3:23957951-23958667	H1-hESC	embryonic stem cell:	n/a	chr3:23958465-23958475 chr3:23958030-23958044
8	SMC3	chr3:23957820-23958909	Hela-S3	cervix:	n/a	chr3:23958465-23958475 chr3:23958514-23958521
9	CHD1	chr3:23957214-23960192	IMR90	lung:	n/a	n/a
10	POLR2A	chr3:23957643-23960742	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr3:23957917-23960298	Hela-S3	cervix:	n/a	n/a
12	MYC	chr3:23957965-23959701	K562	blood:	n/a	n/a
13	MAX	chr3:23957973-23959300	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:23957917-23960748	Hela-S3	cervix:	n/a	n/a
15	RELA	chr3:23957828-23959253	GM18951	blood:	n/a	n/a
16	MAX	chr3:23957925-23959393	SK-N-SH	brain:	n/a	n/a
17	SIN3A	chr3:23957682-23959805	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr3:23957896-23958915	K562	blood:	n/a	chr3:23958468-23958480
19	BCLAF1	chr3:23957912-23959364	K562	blood:	n/a	n/a
20	E2F6	chr3:23957761-23958984	A549	lung:	n/a	chr3:23958468-23958480
21	HMGN3	chr3:23957961-23959364	K562	blood:	n/a	n/a
22	STAT5A	chr3:23957971-23959454	K562	blood:	n/a	n/a
23	ZNF384	chr3:23957959-23959259	K562	blood:	n/a	n/a
24	POLR2A	chr3:23957826-23959413	H1-neurons	neurons:	n/a	n/a
25	SREBP1	chr3:23957585-23960048	GM12878	blood:	n/a	n/a
26	BACH1	chr3:23957923-23958715	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr3:23957976-23965870	K562	blood:	n/a	n/a
28	RUNX3	chr3:23957754-23959327	GM12878	blood:	n/a	n/a
29	NR2F2	chr3:23957689-23959530	K562	blood:	n/a	n/a
30	MAX	chr3:23957872-23959359	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr3:23957870-23963941	H1-hESC	embryonic stem cell:	n/a	n/a
32	ELF1	chr3:23957871-23959317	GM12878	blood:	n/a	n/a
33	MAX	chr3:23957813-23959917	HepG2	liver:	n/a	n/a
34	TAF1	chr3:23957954-23959530	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr3:23957979-23959408	H1-hESC	embryonic stem cell:	n/a	n/a
36	TCF7L2	chr3:23957950-23959300	HCT-116	colon:	n/a	chr3:23958697-23958711
37	POLR2A	chr3:23957955-23959704	GM12878	blood:	n/a	n/a
38	TAF1	chr3:23957862-23959608	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUND	chr3:23957826-23959221	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAZ	chr3:23957935-23959594	K562	blood:	n/a	n/a
41	RCOR1	chr3:23956779-23959303	K562	blood:	n/a	n/a
42	CTCF	chr3:23957416-23958848	K562	blood:	n/a	chr3:23958512-23958525 chr3:23958464-23958474 chr3:23958515-23958524 chr3:23958462-23958475
43	MAX	chr3:23957964-23959240	A549	lung:	n/a	n/a
44	POLR2A	chr3:23957943-23960252	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr3:23957985-23960654	GM18505	blood:	n/a	n/a
46	ZNF263	chr3:23957938-23959263	HEK293-T-REx	kidney:	n/a	chr3:23958599-23958608 chr3:23958706-23958727
47	CHD1	chr3:23957809-23958194	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr3:23957987-23959432	HepG2	liver:	n/a	chr3:23958483-23958494 chr3:23958485-23958494 chr3:23958491-23958505
49	UBTF	chr3:23957843-23959352	K562	blood:	n/a	n/a
50	TBL1XR1	chr3:23957940-23960071	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:23957964-23958014	HRPEpiC	eye:	n/a
2	chr3:23957964-23958014	Hepatocyte	liver:	n/a
3	chr3:23957967-23958017	AG09309	skin:	n/a
4	chr3:23957976-23958026	PrEC	prostate:	n/a
5	chr3:23957964-23958014	AG04450	lung:	fetal
6	chr3:23957976-23958026	PANC-1	pancreas:	n/a
7	chr3:23957964-23958014	HEK293	kidney:	embryo
8	chr3:23957967-23958017	BJ	skin:	n/a
9	chr3:23957967-23958017	NT2-D1	testis:	n/a
10	chr3:23957976-23958026	A549	lung:	n/a
11	chr3:23957967-23958017	GM12892	blood:	n/a
12	chr3:23957964-23958014	U87	brain:	n/a
13	chr3:23957976-23958026	SK-N-SH_RA	brain:	n/a
14	chr3:23957964-23958014	NB4	blood:	n/a
15	chr3:23957976-23958026	HUVEC	blood vessel:	n/a
16	chr3:23957964-23958014	MCF-7	breast:	n/a
17	chr3:23957967-23958017	NHBE	bronchial:	n/a
18	chr3:23957964-23958014	PFSK-1	brain:	n/a
19	chr3:23957976-23958026	Caco-2	colon:	n/a
20	chr3:23957967-23958017	AG04450	lung:	fetal
21	chr3:23957964-23958014	Hela-S3	cervix:	n/a
22	chr3:23957967-23958017	Caco-2	colon:	n/a
23	chr3:23957976-23958026	HMEC	breast:	n/a
24	chr3:23957976-23958026	HPAEpiC	pulmonary alveolar:	n/a
25	chr3:23957976-23958026	CMK	blood:	n/a
26	chr3:23957976-23958026	H1-hESC	embryonic stem cell:	embryo
27	chr3:23957976-23958026	HRE	kidney:	n/a
28	chr3:23957967-23958017	AG09319	gingival:	n/a
29	chr3:23957976-23958026	K562	blood:	n/a
30	chr3:23957964-23958014	HCF	heart:	n/a
31	chr3:23957976-23958026	GM19239	blood:	n/a
32	chr3:23957964-23958014	NHBE	bronchial:	n/a
33	chr3:23957964-23958014	HRCEpiC	kidney:	n/a
34	chr3:23957964-23958014	GM12891	blood:	n/a
35	chr3:23957964-23958014	SK-N-MC	brain:	n/a
36	chr3:23957976-23958026	RPTEC	kidney:	n/a
37	chr3:23957976-23958026	HAEpiC	amniotic membrane:	n/a
38	chr3:23957976-23958026	NH-A	brain:	n/a
39	chr3:23957976-23958026	T-47D	breast:	n/a
40	chr3:23957967-23958017	SK-N-SH	brain:	n/a
41	chr3:23957964-23958014	SKMC	muscle:	n/a
42	chr3:23957976-23958026	HEEpiC	esophagus:	n/a
43	chr3:23957976-23958026	IMR90	lung:	fetal
44	chr3:23957964-23958014	HNPCEpiC	eye:	n/a
45	chr3:23957964-23958014	AG04449	skin:	fetal
46	chr3:23957967-23958017	MCF10A-Er-Src	breast:	n/a
47	chr3:23957976-23958026	BJ	skin:	n/a
48	chr3:23957976-23958026	HEK293	kidney:	embryo
49	chr3:23957976-23958026	AG10803	skin:	n/a
50	chr3:23957964-23958014	SK-N-SH_RA	brain:	n/a

(count:16 , 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	chr3:23957476..23960072-chr3:25467685..25470119,2	K562	blood:
7	chr21:35287562..35288218-chr3:23957907..23958438,2	MCF-7	breast:
8	chr2:96068327..96068925-chr3:23957909..23958508,2	Hela-S3	cervix:
9	chr3:23956080..23959048-chr3:23995915..23997492,2	MCF-7	breast:
10	chr1:203059673..203062550-chr3:23957552..23960185,2	MCF-7	breast:
11	chr3:23852479..23855481-chr3:23956917..23960502,4	MCF-7	breast:
12	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
13	chr3:23957534..23959919-chr3:25823926..25825755,2	K562	blood:
14	chr3:23848988..23853074-chr3:23957156..23960234,5	K562	blood:
15	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
16	chr3:23957572..23960051-chr3:23995970..23999234,5	MCF-7	breast:

No data

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

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

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]
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	0.81[ASN][1000 genomes]
rs72627027	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	0.96[ASN][1000 genomes]
rs72627051	1.00[ASN][1000 genomes]
rs72627052	1.00[ASN][1000 genomes]
rs72627053	1.00[ASN][1000 genomes]
rs72627055	1.00[ASN][1000 genomes]
rs72627056	1.00[ASN][1000 genomes]
rs72627057	1.00[ASN][1000 genomes]
rs72627058	1.00[ASN][1000 genomes]
rs72627059	1.00[ASN][1000 genomes]
rs72627060	1.00[ASN][1000 genomes]
rs72627061	1.00[ASN][1000 genomes]
rs72627062	1.00[ASN][1000 genomes]
rs72627063	1.00[ASN][1000 genomes]
rs72627064	1.00[ASN][1000 genomes]
rs72627065	1.00[ASN][1000 genomes]
rs72627067	1.00[ASN][1000 genomes]
rs72627068	1.00[ASN][1000 genomes]
rs72627069	1.00[ASN][1000 genomes]
rs72627070	1.00[ASN][1000 genomes]
rs72627071	1.00[ASN][1000 genomes]
rs72627072	1.00[ASN][1000 genomes]
rs72627073	1.00[ASN][1000 genomes]
rs72627074	1.00[ASN][1000 genomes]
rs72627075	1.00[ASN][1000 genomes]
rs72627076	1.00[ASN][1000 genomes]
rs72627077	0.86[ASN][1000 genomes]
rs72627078	0.93[ASN][1000 genomes]
rs72627079	1.00[ASN][1000 genomes]
rs72627080	1.00[ASN][1000 genomes]
rs72627082	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	chr3:23956600-23958000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:23956600-23958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:23956800-23958000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:23956800-23958000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:23956800-23959200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:23956800-23959400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:23956800-23959400	Active TSS	Brain Angular Gyrus	brain
9	chr3:23957000-23958000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr3:23957000-23958000	Flanking Active TSS	Hela-S3	cervix
11	chr3:23957000-23958200	Flanking Active TSS	HMEC	breast
12	chr3:23957000-23958200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:23957000-23959400	Active TSS	Colon Smooth Muscle	Colon
14	chr3:23957000-23959600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr3:23957000-23959600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr3:23957000-23959600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:23957000-23960400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:23957000-23960600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:23957000-23960600	Active TSS	Right Atrium	heart
20	chr3:23957200-23958000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr3:23957200-23958000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr3:23957200-23958000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr3:23957200-23958000	Flanking Active TSS	Dnd41	blood
24	chr3:23957200-23958000	Flanking Active TSS	NH-A	brain
25	chr3:23957200-23958200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr3:23957200-23958200	Flanking Active TSS	HUVEC	blood vessel
27	chr3:23957200-23959400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr3:23957200-23959600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:23957200-23959600	Active TSS	Stomach Smooth Muscle	stomach
30	chr3:23957200-23959600	Active TSS	HSMMtube	muscle
31	chr3:23957200-23960200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:23957200-23960800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:23957400-23958000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr3:23957400-23958000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:23957400-23958200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr3:23957400-23958200	Bivalent/Poised TSS	Thymus	Thymus
37	chr3:23957400-23958800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr3:23957400-23959000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:23957400-23959200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr3:23957400-23959400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:23957400-23959400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:23957400-23959400	Active TSS	HSMM	muscle
43	chr3:23957400-23959600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:23957400-23959600	Active TSS	Brain Anterior Caudate	brain
45	chr3:23957400-23959600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr3:23957400-23959600	Active TSS	Fetal Stomach	stomach
47	chr3:23957400-23959600	Active TSS	Left Ventricle	heart
48	chr3:23957400-23959600	Active TSS	Rectal Smooth Muscle	rectum
49	chr3:23957400-23959600	Active TSS	GM12878-XiMat	blood
50	chr3:23957400-23959600	Active TSS	NHDF-Ad	bronchial

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