Variant report

Variant	rs7492501
Chromosome Location	chr14:78162160-78162161
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	chr14:78154902..78157817-chr14:78159503..78162489,4	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11621162	0.81[AFR][1000 genomes]
rs11621593	1.00[ASN][1000 genomes]
rs11624052	0.81[AFR][1000 genomes]
rs11850235	1.00[ASN][1000 genomes]
rs17825434	0.81[AFR][1000 genomes]
rs17825458	0.81[AFR][1000 genomes]
rs1985149	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2003594	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2111829	1.00[ASN][1000 genomes]
rs28393221	0.92[ASN][1000 genomes]
rs56339806	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6493	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6494	0.81[AFR][1000 genomes]
rs7151836	1.00[ASN][1000 genomes]
rs72685236	1.00[ASN][1000 genomes]
rs72685238	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72685244	0.81[AFR][1000 genomes]
rs72685246	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72685260	0.81[AFR][1000 genomes]
rs72685267	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72685273	0.81[AFR][1000 genomes]
rs72685297	1.00[ASN][1000 genomes]
rs72685302	1.00[ASN][1000 genomes]
rs72687223	1.00[ASN][1000 genomes]
rs72687241	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72687247	1.00[ASN][1000 genomes]
rs72687256	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72688829	1.00[ASN][1000 genomes]
rs72688836	0.92[ASN][1000 genomes]
rs8015796	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8015938	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
8	chr14:78142600-78162200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:78142600-78162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:78148400-78162800	Weak transcription	Aorta	Aorta
11	chr14:78148400-78162800	Weak transcription	Pancreas	Pancrea
12	chr14:78148400-78164400	Weak transcription	Psoas Muscle	Psoas
13	chr14:78148600-78162800	Weak transcription	NHLF	lung
14	chr14:78149200-78163800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:78149200-78171400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:78149800-78163000	Weak transcription	Stomach Mucosa	stomach
17	chr14:78149800-78164200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:78150200-78163800	Strong transcription	Fetal Muscle Leg	muscle
19	chr14:78150400-78172200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:78152200-78164200	Strong transcription	Liver	Liver
21	chr14:78152200-78164600	Strong transcription	Adipose Nuclei	Adipose
22	chr14:78152400-78171200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:78152600-78172200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:78152800-78165400	Strong transcription	Placenta	Placenta
25	chr14:78152800-78171400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:78153400-78163000	Weak transcription	Right Ventricle	heart
27	chr14:78153400-78171200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:78153400-78171400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr14:78153400-78172000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr14:78154400-78162600	Weak transcription	HSMMtube	muscle
31	chr14:78154400-78168800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:78154400-78172600	Weak transcription	Small Intestine	intestine
33	chr14:78154600-78167200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:78155400-78163600	Strong transcription	HSMM	muscle
35	chr14:78155400-78163800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:78155600-78163800	Strong transcription	Fetal Brain Female	brain
37	chr14:78155600-78164000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:78155600-78164800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:78155800-78163800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:78155800-78165600	Strong transcription	Primary T cells from cord blood	blood
41	chr14:78156000-78171400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:78156200-78163800	Strong transcription	Fetal Thymus	thymus
43	chr14:78156200-78164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:78156200-78165000	Strong transcription	Primary B cells from cord blood	blood
45	chr14:78156200-78165200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:78156200-78165800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:78156200-78172000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:78156400-78162200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr14:78156400-78162800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:78156400-78163800	Strong transcription	Rectal Mucosa Donor 29	rectum

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