Variant report

Variant	rs72627096
Chromosome Location	chr3:23990284-23990285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:23990252-23990452	K562	blood:	n/a	n/a
2	POLR2A	chr3:23990034-23990555	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:23988774-23992252	A549	lung:	n/a	n/a
4	POLR2A	chr3:23990248-23990581	HCT-116	colon:	n/a	n/a
5	POLR2A	chr3:23985541-23990663	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOS	chr3:23990261-23990620	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:23989541-23990574	HepG2	liver:	n/a	n/a
8	FOS	chr3:23990266-23990609	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr3:23990265-23990609	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr3:23990256-23990622	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr3:23989629-23990518	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:23990256-23990475	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
2	chr3:23988541..23991177-chr3:24537846..24539360,2	K562	blood:
3	chr3:23988335..23991846-chr3:24002543..24006084,3	K562	blood:
4	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
5	chr3:23985538..23993367-chr3:23993730..24003801,19	MCF-7	breast:

No data

Variant related genes	Relation type
NKIRAS1	TF binding region
ENSG00000197885	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000174748	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs13317815	0.97[ASN][1000 genomes]
rs13321439	0.97[ASN][1000 genomes]
rs13321440	0.97[ASN][1000 genomes]
rs2360020	0.90[ASN][1000 genomes]
rs34593533	0.97[ASN][1000 genomes]
rs35457462	0.93[ASN][1000 genomes]
rs4132595	0.97[ASN][1000 genomes]
rs59090179	0.86[ASN][1000 genomes]
rs67465878	0.86[ASN][1000 genomes]
rs6770052	0.97[ASN][1000 genomes]
rs6778577	0.97[ASN][1000 genomes]
rs6803587	0.97[ASN][1000 genomes]
rs72627028	0.83[ASN][1000 genomes]
rs72627029	0.83[ASN][1000 genomes]
rs72627030	0.83[ASN][1000 genomes]
rs72627031	0.83[ASN][1000 genomes]
rs72627032	0.83[ASN][1000 genomes]
rs72627033	0.83[ASN][1000 genomes]
rs72627034	0.83[ASN][1000 genomes]
rs72627035	0.83[ASN][1000 genomes]
rs72627036	0.83[ASN][1000 genomes]
rs72627037	0.83[ASN][1000 genomes]
rs72627038	0.83[ASN][1000 genomes]
rs72627039	0.83[ASN][1000 genomes]
rs72627040	0.83[ASN][1000 genomes]
rs72627042	0.80[ASN][1000 genomes]
rs72627043	0.83[ASN][1000 genomes]
rs72627044	0.90[ASN][1000 genomes]
rs72627046	0.90[ASN][1000 genomes]
rs72627047	0.86[ASN][1000 genomes]
rs72627048	0.86[ASN][1000 genomes]
rs72627049	0.86[ASN][1000 genomes]
rs72627050	0.86[ASN][1000 genomes]
rs72627051	0.90[ASN][1000 genomes]
rs72627052	0.90[ASN][1000 genomes]
rs72627053	0.90[ASN][1000 genomes]
rs72627055	0.90[ASN][1000 genomes]
rs72627056	0.90[ASN][1000 genomes]
rs72627057	0.90[ASN][1000 genomes]
rs72627058	0.90[ASN][1000 genomes]
rs72627059	0.90[ASN][1000 genomes]
rs72627060	0.90[ASN][1000 genomes]
rs72627061	0.90[ASN][1000 genomes]
rs72627062	0.90[ASN][1000 genomes]
rs72627063	0.90[ASN][1000 genomes]
rs72627064	0.90[ASN][1000 genomes]
rs72627065	0.90[ASN][1000 genomes]
rs72627067	0.90[ASN][1000 genomes]
rs72627068	0.90[ASN][1000 genomes]
rs72627069	0.90[ASN][1000 genomes]
rs72627070	0.90[ASN][1000 genomes]
rs72627071	0.90[ASN][1000 genomes]
rs72627072	0.90[ASN][1000 genomes]
rs72627073	0.90[ASN][1000 genomes]
rs72627074	0.90[ASN][1000 genomes]
rs72627075	0.90[ASN][1000 genomes]
rs72627076	0.90[ASN][1000 genomes]
rs72627078	0.90[ASN][1000 genomes]
rs72627079	0.90[ASN][1000 genomes]
rs72627080	0.90[ASN][1000 genomes]
rs72627081	0.90[ASN][1000 genomes]
rs72627082	0.90[ASN][1000 genomes]
rs72627083	0.90[ASN][1000 genomes]
rs72627084	0.90[ASN][1000 genomes]
rs72627085	0.90[ASN][1000 genomes]
rs72627086	0.90[ASN][1000 genomes]
rs72627087	0.90[ASN][1000 genomes]
rs72627088	0.90[ASN][1000 genomes]
rs72627089	0.90[ASN][1000 genomes]
rs72627090	0.90[ASN][1000 genomes]
rs72627091	0.93[ASN][1000 genomes]
rs72627097	1.00[ASN][1000 genomes]
rs72627098	1.00[ASN][1000 genomes]
rs72627099	1.00[ASN][1000 genomes]
rs72627100	0.93[ASN][1000 genomes]
rs72627101	0.93[ASN][1000 genomes]
rs72627102	0.93[ASN][1000 genomes]
rs72628103	0.93[ASN][1000 genomes]
rs72628104	0.93[ASN][1000 genomes]
rs72628105	0.93[ASN][1000 genomes]
rs72628106	0.93[ASN][1000 genomes]
rs72628107	0.93[ASN][1000 genomes]
rs72628108	0.93[ASN][1000 genomes]
rs72628109	0.93[ASN][1000 genomes]
rs72628111	0.93[ASN][1000 genomes]
rs72628112	0.90[ASN][1000 genomes]
rs72628113	0.90[ASN][1000 genomes]
rs72628114	0.90[ASN][1000 genomes]
rs72628115	0.90[ASN][1000 genomes]
rs72628116	0.90[ASN][1000 genomes]
rs72628119	0.86[ASN][1000 genomes]
rs72628123	0.86[ASN][1000 genomes]
rs72628124	0.86[ASN][1000 genomes]
rs72628126	0.90[ASN][1000 genomes]
rs954747	0.81[ASN][1000 genomes]
rs9817923	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv834638	chr3:23963860-24117191	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23987800-23991200	Enhancers	Fetal Heart	heart
2	chr3:23988000-23995000	Weak transcription	Spleen	Spleen
3	chr3:23988200-23990400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:23988200-23991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:23988200-23992200	Enhancers	Small Intestine	intestine
6	chr3:23988200-23992200	Enhancers	Stomach Mucosa	stomach
7	chr3:23988200-23993800	Enhancers	Brain Substantia Nigra	brain
8	chr3:23988200-24000600	Weak transcription	Fetal Brain Male	brain
9	chr3:23988200-24003600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:23988400-23990400	Enhancers	Duodenum Mucosa	Duodenum
11	chr3:23988400-23990800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr3:23988400-23991600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:23988400-23991600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:23988400-23991800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:23988400-23992400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:23988400-23993600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr3:23988400-23995200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:23988400-23996000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:23988400-23996400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr3:23988400-24003000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:23988400-24003400	Weak transcription	Fetal Kidney	kidney
22	chr3:23988600-23990600	Enhancers	Right Ventricle	heart
23	chr3:23988600-23991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:23988600-23994000	Enhancers	Psoas Muscle	Psoas
25	chr3:23988600-23996000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:23988800-23990600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:23988800-23991000	Weak transcription	Dnd41	blood
28	chr3:23988800-23991000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr3:23988800-23991200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:23988800-23991200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr3:23989000-23990400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:23989000-23990600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr3:23989000-23991000	Weak transcription	Thymus	Thymus
34	chr3:23989000-23991200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr3:23989000-23991200	Weak transcription	Primary T cells from cord blood	blood
36	chr3:23989000-23991400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:23989000-23991400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:23989000-23991400	Weak transcription	Fetal Intestine Large	intestine
39	chr3:23989000-23991400	Weak transcription	Fetal Stomach	stomach
40	chr3:23989000-23991600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:23989000-23991600	Enhancers	NHDF-Ad	bronchial
42	chr3:23989000-23991600	Enhancers	NHLF	lung
43	chr3:23989000-23992000	Enhancers	NHEK	skin
44	chr3:23989000-23992200	Enhancers	HepG2	liver
45	chr3:23989000-23992200	Enhancers	HMEC	breast
46	chr3:23989000-23993800	Enhancers	Liver	Liver
47	chr3:23989000-23996400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:23989000-23997800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:23989000-23998200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:23989200-23990400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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