Variant report

Variant	rs1252964
Chromosome Location	chr14:45714333-45714334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr14:45714248-45714571	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:45714304-45714454	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFYB	chr14:45714326-45714486	GM12878	blood:	n/a	n/a
4	STAT3	chr14:45714044-45714549	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MIS18BP1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1252952	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252953	1.00[AMR][1000 genomes]
rs1252954	1.00[AMR][1000 genomes]
rs1252956	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252961	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252965	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1262124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1268577	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1268578	1.00[AMR][1000 genomes]
rs1269008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1272103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61745871	1.00[AMR][1000 genomes]
rs941878	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv901845	chr14:45619217-45772910	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1045297	chr14:45631260-45755992	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv901846	chr14:45702358-45783546	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv564726	chr14:45702358-45911581	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv2758357	chr14:45706082-45982410	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	esv2759987	chr14:45706082-45982410	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
2	chr14:45655600-45719200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:45674600-45719200	Weak transcription	Colonic Mucosa	Colon
4	chr14:45682000-45721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:45682200-45714800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:45682200-45719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:45682400-45720400	Weak transcription	Brain Germinal Matrix	brain
8	chr14:45684800-45719400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:45686600-45719200	Weak transcription	Fetal Heart	heart
10	chr14:45687200-45719200	Weak transcription	HSMMtube	muscle
11	chr14:45692200-45719000	Weak transcription	Small Intestine	intestine
12	chr14:45692200-45719800	Weak transcription	Esophagus	oesophagus
13	chr14:45692800-45718600	Weak transcription	Lung	lung
14	chr14:45693600-45719200	Weak transcription	K562	blood
15	chr14:45693600-45719200	Weak transcription	NHEK	skin
16	chr14:45695000-45721600	Weak transcription	Pancreas	Pancrea
17	chr14:45699600-45715200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:45699800-45715200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:45700200-45715000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:45700200-45719800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:45700200-45720800	Weak transcription	Fetal Kidney	kidney
22	chr14:45701000-45716000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:45701000-45718600	Weak transcription	Placenta	Placenta
24	chr14:45701000-45719200	Weak transcription	Liver	Liver
25	chr14:45702400-45721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:45702600-45719200	Weak transcription	Fetal Lung	lung
27	chr14:45702600-45720400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:45702800-45719200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:45702800-45719200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:45704000-45715400	Weak transcription	NHDF-Ad	bronchial
31	chr14:45704000-45716000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:45704200-45719000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:45704600-45715200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:45704600-45715200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:45704600-45719000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:45704600-45721200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr14:45704800-45718800	Weak transcription	Fetal Stomach	stomach
38	chr14:45704800-45721600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:45705000-45718600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:45705200-45719200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:45705400-45721200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:45706400-45715200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:45707400-45720600	Weak transcription	HSMM	muscle
44	chr14:45708600-45716000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:45708800-45721000	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:45709000-45715800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:45709000-45719200	Weak transcription	NH-A	brain
48	chr14:45709000-45720600	Weak transcription	Fetal Intestine Large	intestine
49	chr14:45709200-45718600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:45709200-45719200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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