Variant report

Variant	rs11847071
Chromosome Location	chr14:45435058-45435059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:45434997-45435237	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr14:45434960-45435251	K562	blood:	n/a	n/a
3	NR2F2	chr14:45434973-45435280	K562	blood:	n/a	n/a
4	HDAC2	chr14:45434975-45435234	K562	blood:	n/a	n/a
5	CEBPB	chr14:45435013-45435190	HepG2	liver:	n/a	n/a
6	RCOR1	chr14:45434985-45435215	K562	blood:	n/a	n/a
7	CEBPB	chr14:45435027-45435200	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:45430487..45433792-chr14:45434930..45436837,4	MCF-7	breast:
2	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
3	chr14:45432794..45435904-chr14:45437854..45440378,3	K562	blood:
4	chr14:45433894..45436353-chr14:45438696..45441267,2	MCF-7	breast:

No data

Variant related genes	Relation type
KLHL28	TF binding region
ENSG00000198718	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000187790	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11846891	1.00[CEU][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11847933	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs11848799	0.92[ASW][hapmap]
rs11850346	0.83[ASW][hapmap]
rs11850713	0.84[EUR][1000 genomes]
rs17115679	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs17115680	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs17115681	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs45590239	1.00[EUR][1000 genomes]
rs59017481	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59073313	0.84[EUR][1000 genomes]
rs6572288	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs7149582	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs73334137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73334178	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73334919	1.00[EUR][1000 genomes]
rs73340630	0.84[EUR][1000 genomes]
rs73340634	0.84[EUR][1000 genomes]
rs73346308	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73346324	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348059	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73348082	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73348279	0.98[AFR][1000 genomes]
rs73349815	0.84[EUR][1000 genomes]
rs73350005	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73353671	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45428400-45436600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
3	chr14:45429000-45435200	Active TSS	Fetal Intestine Large	intestine
4	chr14:45429200-45435200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:45429200-45435200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:45429200-45435400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:45429200-45436800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:45429400-45435200	Active TSS	Right Atrium	heart
9	chr14:45429600-45436200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:45429600-45437000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr14:45429600-45437400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:45429800-45435400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:45429800-45435400	Active TSS	Right Ventricle	heart
14	chr14:45429800-45436600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr14:45430200-45436000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:45431600-45437200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:45431800-45435400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:45432000-45435400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr14:45432200-45435200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:45432200-45435200	Flanking Active TSS	HUVEC	blood vessel
21	chr14:45432200-45435400	Flanking Active TSS	Dnd41	blood
22	chr14:45433000-45435200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr14:45433000-45435600	Active TSS	Fetal Brain Female	brain
24	chr14:45433000-45437000	Active TSS	Fetal Intestine Small	intestine
25	chr14:45433200-45435200	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:45433200-45435200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:45433200-45436000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:45433200-45436000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr14:45433400-45435200	Active TSS	Ovary	ovary
30	chr14:45433400-45435200	Active TSS	HMEC	breast
31	chr14:45433400-45435800	Active TSS	Brain Germinal Matrix	brain
32	chr14:45433400-45435800	Active TSS	Brain Substantia Nigra	brain
33	chr14:45433400-45435800	Active TSS	Fetal Kidney	kidney
34	chr14:45433400-45436000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:45433400-45436000	Active TSS	Aorta	Aorta
36	chr14:45433400-45436000	Active TSS	Brain Cingulate Gyrus	brain
37	chr14:45433400-45436000	Active TSS	Brain Hippocampus Middle	brain
38	chr14:45433400-45436800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:45433400-45437000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:45433400-45437200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:45433600-45435200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:45433600-45435200	Weak transcription	Gastric	stomach
43	chr14:45433600-45435200	Weak transcription	Lung	lung
44	chr14:45433600-45435200	Weak transcription	Pancreas	Pancrea
45	chr14:45433600-45435200	Active TSS	Psoas Muscle	Psoas
46	chr14:45433600-45435200	Weak transcription	Spleen	Spleen
47	chr14:45433600-45435400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:45433600-45435400	Active TSS	Fetal Stomach	stomach
49	chr14:45433600-45435800	Active TSS	Brain Angular Gyrus	brain
50	chr14:45433600-45435800	Active TSS	Brain Inferior Temporal Lobe	brain

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