Variant report

Variant	rs2274680
Chromosome Location	chr14:21551866-21551867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21550533..21554040-chr14:21555474..21559847,4	K562	blood:
2	chr14:21551229..21553678-chr14:21572331..21574679,2	K562	blood:
3	chr14:21551066..21553678-chr14:21572331..21574679,3	K562	blood:
4	chr14:21543597..21548802-chr14:21549999..21554096,6	MCF-7	breast:
5	chr14:21550671..21553529-chr14:21566207..21567763,2	MCF-7	breast:
6	chr14:21536527..21539599-chr14:21551336..21554432,4	MCF-7	breast:
7	chr14:21550786..21552632-chr14:21553088..21555005,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165795	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000258714	Chromatin interaction
ENSG00000232070	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10146334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621987	1.00[ASN][1000 genomes]
rs2274679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274682	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3827912	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57471121	0.80[ASN][1000 genomes]
rs61744857	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21540800-21552400	Weak transcription	Fetal Heart	heart
2	chr14:21540800-21554000	Weak transcription	Primary B cells from cord blood	blood
3	chr14:21540800-21554800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21541000-21552200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:21541000-21552600	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr14:21541000-21554000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:21541000-21554400	Strong transcription	Lung	lung
8	chr14:21541000-21555000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:21541000-21555200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:21541000-21555200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:21541000-21555600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:21541000-21561000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:21541200-21552000	Strong transcription	Fetal Intestine Large	intestine
14	chr14:21541200-21552600	Strong transcription	Left Ventricle	heart
15	chr14:21541200-21553000	Strong transcription	HSMMtube	muscle
16	chr14:21541200-21553600	Weak transcription	Small Intestine	intestine
17	chr14:21541200-21554600	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr14:21541200-21555000	Strong transcription	Aorta	Aorta
19	chr14:21541200-21555200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:21541200-21557000	Weak transcription	Hela-S3	cervix
21	chr14:21541200-21561400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:21541400-21552600	Strong transcription	Right Ventricle	heart
23	chr14:21541400-21552800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:21541400-21554400	Strong transcription	NHLF	lung
25	chr14:21541400-21554800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:21541400-21554800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:21541400-21555000	Strong transcription	Brain Germinal Matrix	brain
28	chr14:21541400-21555200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr14:21541400-21555200	Strong transcription	Brain Cingulate Gyrus	brain
30	chr14:21541400-21555200	Strong transcription	Colonic Mucosa	Colon
31	chr14:21541400-21555600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:21541400-21558000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:21541400-21560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:21541400-21560200	Strong transcription	Placenta	Placenta
35	chr14:21541600-21552000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr14:21541600-21552000	Strong transcription	Adipose Nuclei	Adipose
37	chr14:21541600-21552200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:21541600-21552400	Strong transcription	Fetal Intestine Small	intestine
39	chr14:21541600-21552600	Strong transcription	NH-A	brain
40	chr14:21541600-21553400	Strong transcription	Colon Smooth Muscle	Colon
41	chr14:21541600-21553800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:21541600-21555000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr14:21541600-21555200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:21541600-21555200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr14:21541600-21555400	Strong transcription	Brain Hippocampus Middle	brain
46	chr14:21541600-21555800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr14:21541600-21557000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr14:21541600-21558800	Strong transcription	Fetal Lung	lung
49	chr14:21541600-21560400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:21541800-21552800	Strong transcription	Osteobl	bone

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