Variant report

Variant	rs11851751
Chromosome Location	chr14:64973016-64973017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:64969257-64973023	GM12878	blood:	n/a	n/a
2	CHD1	chr14:64967702-64973034	IMR90	lung:	n/a	chr14:64971962-64971972
3	MXI1	chr14:64969228-64973025	SK-N-SH	brain:	n/a	chr14:64970522-64970531
4	POLR2A	chr14:64969152-64973063	GM12878	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64853586..64859592-chr14:64968792..64973445,7	MCF-7	breast:
2	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
3	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
4	chr14:64952330..64955037-chr14:64972049..64976293,4	K562	blood:
5	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
6	chr14:61788720..61790610-chr14:64970781..64973173,2	MCF-7	breast:
7	chr14:64972864..64974430-chr14:65133703..65136620,2	MCF-7	breast:
8	chr14:64853592..64856673-chr14:64970174..64974352,5	K562	blood:
9	chr14:64853142..64856847-chr14:64968558..64973163,8	K562	blood:
10	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
11	chr14:64972127..64974828-chr17:57925743..57928112,2	MCF-7	breast:
12	chr14:64972191..64974986-chr14:64988003..64989901,3	MCF-7	breast:
13	chr14:64803252..64809099-chr14:64968512..64973071,12	K562	blood:
14	chr14:64930987..64933079-chr14:64967526..64973126,5	K562	blood:
15	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:
16	chr14:64972763..64974388-chr14:65172588..65174166,2	MCF-7	breast:
17	chr14:64804345..64806139-chr14:64972304..64974654,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZBTB25	TF binding region
ENSG00000259116	Chromatin interaction
ENSG00000259160	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000027075	Chromatin interaction
ENSG00000179841	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000247287	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000214770	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10498514	1.00[EUR][1000 genomes]
rs11844318	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848452	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849167	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101851	1.00[EUR][1000 genomes]
rs17101854	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101915	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101919	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17751805	1.00[ASN][1000 genomes]
rs2123464	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295638	1.00[EUR][1000 genomes]
rs2295639	1.00[EUR][1000 genomes]
rs35062852	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45472695	0.94[EUR][1000 genomes]
rs45498699	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45523434	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45608633	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57092929	0.89[EUR][1000 genomes]
rs59096477	1.00[EUR][1000 genomes]
rs59397130	1.00[EUR][1000 genomes]
rs59403712	1.00[EUR][1000 genomes]
rs59422037	1.00[EUR][1000 genomes]
rs59686564	1.00[EUR][1000 genomes]
rs59770063	1.00[EUR][1000 genomes]
rs60063929	1.00[EUR][1000 genomes]
rs60806768	1.00[EUR][1000 genomes]
rs61107070	1.00[EUR][1000 genomes]
rs61288516	1.00[ASN][1000 genomes]
rs61290360	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263767	1.00[EUR][1000 genomes]
rs73263770	1.00[EUR][1000 genomes]
rs73263773	1.00[EUR][1000 genomes]
rs73263781	1.00[EUR][1000 genomes]
rs73263782	1.00[EUR][1000 genomes]
rs73277968	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277975	1.00[EUR][1000 genomes]
rs73277976	1.00[EUR][1000 genomes]
rs73277977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277979	1.00[EUR][1000 genomes]
rs73277985	1.00[EUR][1000 genomes]
rs8019215	1.00[EUR][1000 genomes]
rs8022867	1.00[EUR][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	nsv521823	chr14:64969342-64995694	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	esv3387679	chr14:64970224-64973172	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64967800-64974200	Active TSS	GM12878-XiMat	blood
2	chr14:64968000-64973400	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr14:64968800-64974200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr14:64969000-64973600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:64969200-64973600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:64969200-64973800	Active TSS	Aorta	Aorta
7	chr14:64969200-64974000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:64969400-64973200	Active TSS	Thymus	Thymus
9	chr14:64969400-64973400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr14:64969400-64973400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:64969400-64973400	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr14:64969400-64973600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:64969600-64973200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:64969600-64973200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:64969600-64973200	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr14:64969600-64973200	Active TSS	Muscle Satellite Cultured Cells	--
17	chr14:64969600-64973200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:64969600-64973400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:64969600-64973400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:64969600-64973400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:64969600-64973400	Active TSS	Psoas Muscle	Psoas
22	chr14:64969600-64973400	Active TSS	HSMM	muscle
23	chr14:64969600-64973400	Active TSS	NHDF-Ad	bronchial
24	chr14:64969600-64973600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:64969600-64973600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:64969600-64973600	Active TSS	Right Ventricle	heart
27	chr14:64969600-64974200	Active TSS	NHLF	lung
28	chr14:64969800-64973200	Active TSS	Primary T cells from cord blood	blood
29	chr14:64969800-64973200	Active TSS	K562	blood
30	chr14:64969800-64973200	Active TSS	Osteobl	bone
31	chr14:64969800-64973400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:64969800-64973400	Active TSS	Fetal Muscle Leg	muscle
33	chr14:64969800-64973400	Active TSS	Rectal Smooth Muscle	rectum
34	chr14:64969800-64973600	Active TSS	HSMMtube	muscle
35	chr14:64970000-64973200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:64970000-64973400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:64970200-64973200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:64970200-64973200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:64970200-64973400	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr14:64970400-64973400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:64970800-64973400	Active TSS	Colonic Mucosa	Colon
42	chr14:64971200-64973600	Active TSS	Stomach Smooth Muscle	stomach
43	chr14:64971400-64973400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr14:64971600-64973800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:64971800-64975200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr14:64972000-64973400	Active TSS	Right Atrium	heart
47	chr14:64972200-64973400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:64972200-64973800	Flanking Active TSS	Fetal Thymus	thymus
49	chr14:64972200-64974800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr14:64972200-64975400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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