Variant report

Variant	rs8003070
Chromosome Location	chr14:78153057-78153058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78153042..78154618-chr14:78173540..78175822,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17106214	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58016276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59215192	1.00[AMR][1000 genomes]
rs59532454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60806343	1.00[EUR][1000 genomes]
rs7141447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307598	1.00[EUR][1000 genomes]
rs73309307	1.00[AMR][1000 genomes]
rs73309309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319430	1.00[AMR][1000 genomes]
rs73319431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319438	1.00[AMR][1000 genomes]
rs73319440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
7	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	chr14:78128000-78157800	Weak transcription	Fetal Brain Male	brain
3	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:78135200-78156200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
7	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:78138200-78154400	Strong transcription	Dnd41	blood
9	chr14:78140200-78156600	Weak transcription	K562	blood
10	chr14:78140400-78157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:78140400-78160400	Weak transcription	Fetal Kidney	kidney
12	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:78140600-78158600	Weak transcription	Esophagus	oesophagus
14	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:78141200-78153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:78141200-78160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
18	chr14:78141400-78156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:78141400-78156600	Weak transcription	Brain Substantia Nigra	brain
20	chr14:78141400-78157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:78141600-78155800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:78141600-78156600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:78142200-78156600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:78142200-78157600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:78142200-78161200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:78142400-78154200	Weak transcription	GM12878-XiMat	blood
27	chr14:78142600-78162200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:78142600-78162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:78142800-78155800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:78145400-78158600	Weak transcription	Spleen	Spleen
31	chr14:78146400-78153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:78146400-78157800	Weak transcription	Fetal Lung	lung
33	chr14:78146400-78160000	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:78146400-78161800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:78146600-78153200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:78146800-78155800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr14:78147000-78157800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:78148000-78154600	Strong transcription	Primary T cells from cord blood	blood
39	chr14:78148200-78154400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:78148200-78158600	Weak transcription	Gastric	stomach
41	chr14:78148400-78157800	Weak transcription	Brain Angular Gyrus	brain
42	chr14:78148400-78158400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:78148400-78158600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:78148400-78162800	Weak transcription	Aorta	Aorta
45	chr14:78148400-78162800	Weak transcription	Pancreas	Pancrea
46	chr14:78148400-78164400	Weak transcription	Psoas Muscle	Psoas
47	chr14:78148600-78155400	Weak transcription	NHDF-Ad	bronchial
48	chr14:78148600-78157800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:78148600-78158200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:78148600-78158400	Weak transcription	Colon Smooth Muscle	Colon

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