Variant report

Variant	rs2267757
Chromosome Location	chr14:78147301-78147302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78145857..78148967-chr14:78171085..78175520,5	MCF-7	breast:
2	chr14:78145812..78147839-chr14:78160539..78163248,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258917	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1076496	0.94[ASN][1000 genomes]
rs12432030	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12587155	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12587584	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587825	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12881898	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886631	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12891621	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12892669	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267755	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270443	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299931	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35261431	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35657726	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4540996	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899676	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4903624	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67408612	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7145979	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8003389	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003715	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3693172	chr14:78130479-78152921	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78128000-78157800	Weak transcription	Fetal Brain Male	brain
3	chr14:78129800-78147600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:78134200-78148000	Weak transcription	NH-A	brain
5	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:78135200-78156200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:78136200-78148000	Weak transcription	HSMMtube	muscle
8	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:78137800-78148400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
11	chr14:78138000-78148000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:78138200-78147600	Weak transcription	Psoas Muscle	Psoas
14	chr14:78138200-78148400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:78138200-78154400	Strong transcription	Dnd41	blood
16	chr14:78139000-78147600	Weak transcription	Small Intestine	intestine
17	chr14:78140200-78156600	Weak transcription	K562	blood
18	chr14:78140400-78147600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:78140400-78147600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:78140400-78157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:78140400-78160400	Weak transcription	Fetal Kidney	kidney
22	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:78140600-78147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:78140600-78147800	Weak transcription	NHEK	skin
25	chr14:78140600-78158600	Weak transcription	Esophagus	oesophagus
26	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:78140800-78147600	Weak transcription	Pancreas	Pancrea
28	chr14:78141200-78147600	Weak transcription	Gastric	stomach
29	chr14:78141200-78153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:78141200-78160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
32	chr14:78141400-78147600	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:78141400-78148600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:78141400-78156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:78141400-78156600	Weak transcription	Brain Substantia Nigra	brain
36	chr14:78141400-78157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:78141600-78147600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:78141600-78147600	Weak transcription	Right Ventricle	heart
39	chr14:78141600-78148000	Weak transcription	A549	lung
40	chr14:78141600-78148000	Weak transcription	NHLF	lung
41	chr14:78141600-78148200	Weak transcription	NHDF-Ad	bronchial
42	chr14:78141600-78155800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:78141600-78156600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:78142200-78147600	Weak transcription	Brain Anterior Caudate	brain
45	chr14:78142200-78148000	Weak transcription	Aorta	Aorta
46	chr14:78142200-78148000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:78142200-78148000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:78142200-78156600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:78142200-78157600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:78142200-78161200	Weak transcription	Placenta Amnion	Placenta Amnion

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