Variant report

Variant	rs12889267
Chromosome Location	chr14:21542766-21542767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21542596-21542838	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:21542627-21543024	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:21542520-21542890	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:21542531-21543623	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr14:21542197-21544093	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:21542620-21542793	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:21537144..21539599-chr14:21542273..21545056,2	MCF-7	breast:
2	chr14:21541693..21544085-chr14:21569593..21572197,2	MCF-7	breast:
3	chr14:21540981..21542850-chr14:21570745..21572506,2	K562	blood:
4	chr14:21536330..21539100-chr14:21541107..21543539,3	K562	blood:
5	chr14:21541253..21544061-chr14:21560086..21562416,3	K562	blood:
6	chr14:21540755..21543423-chr14:21560916..21563307,2	K562	blood:
7	chr14:21536664..21539364-chr14:21541647..21545270,3	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGEF40	TF binding region
NDRG2	TF binding region
ENSG00000165795	Chromatin interaction
ENSG00000232070	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000165804	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1243473	0.89[ASN][1000 genomes]
rs12434837	0.81[AMR][1000 genomes]
rs12885183	1.00[ASN][1000 genomes]
rs12885295	0.84[ASN][1000 genomes]
rs12891708	0.88[ASN][1000 genomes]
rs2319625	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2319626	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2319627	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28370407	0.83[AMR][1000 genomes]
rs36100359	0.84[AMR][1000 genomes]
rs3827910	0.89[ASN][1000 genomes]
rs45486304	0.85[AMR][1000 genomes]
rs45515493	0.85[AMR][1000 genomes]
rs66995536	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
2	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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
9	nsv528337	chr14:21540863-21565189	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21539800-21543200	Weak transcription	Esophagus	oesophagus
2	chr14:21540200-21544000	Weak transcription	Psoas Muscle	Psoas
3	chr14:21540400-21543200	Genic enhancers	Fetal Muscle Leg	muscle
4	chr14:21540400-21543400	Weak transcription	Brain Angular Gyrus	brain
5	chr14:21540400-21547000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:21540600-21543200	Weak transcription	Fetal Brain Female	brain
7	chr14:21540600-21543800	Weak transcription	K562	blood
8	chr14:21540600-21544000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:21540600-21544600	Weak transcription	HMEC	breast
10	chr14:21540600-21550200	Weak transcription	A549	lung
11	chr14:21540800-21543400	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr14:21540800-21543800	Weak transcription	Fetal Brain Male	brain
13	chr14:21540800-21544000	Weak transcription	NHEK	skin
14	chr14:21540800-21552400	Weak transcription	Fetal Heart	heart
15	chr14:21540800-21554000	Weak transcription	Primary B cells from cord blood	blood
16	chr14:21540800-21554800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:21541000-21543400	Weak transcription	Brain Substantia Nigra	brain
18	chr14:21541000-21544000	Genic enhancers	Pancreas	Pancrea
19	chr14:21541000-21544200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:21541000-21544600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:21541000-21544600	Genic enhancers	Spleen	Spleen
22	chr14:21541000-21552200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:21541000-21552600	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr14:21541000-21554000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:21541000-21554400	Strong transcription	Lung	lung
26	chr14:21541000-21555000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:21541000-21555200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:21541000-21555200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:21541000-21555600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:21541000-21561000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:21541200-21543400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:21541200-21543800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:21541200-21548600	Strong transcription	HSMM	muscle
34	chr14:21541200-21552000	Strong transcription	Fetal Intestine Large	intestine
35	chr14:21541200-21552600	Strong transcription	Left Ventricle	heart
36	chr14:21541200-21553000	Strong transcription	HSMMtube	muscle
37	chr14:21541200-21553600	Weak transcription	Small Intestine	intestine
38	chr14:21541200-21554600	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr14:21541200-21555000	Strong transcription	Aorta	Aorta
40	chr14:21541200-21555200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:21541200-21557000	Weak transcription	Hela-S3	cervix
42	chr14:21541200-21561400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:21541400-21542800	Weak transcription	Brain Anterior Caudate	brain
44	chr14:21541400-21543000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:21541400-21551200	Strong transcription	Rectal Smooth Muscle	rectum
46	chr14:21541400-21551800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:21541400-21552600	Strong transcription	Right Ventricle	heart
48	chr14:21541400-21552800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:21541400-21554400	Strong transcription	NHLF	lung
50	chr14:21541400-21554800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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