Variant report

Variant	rs8008258
Chromosome Location	chr14:78078163-78078164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78070489..78072668-chr14:78077080..78079522,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10129280	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137398	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139059	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10146161	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10873309	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12887526	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1861942	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267746	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267747	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267748	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267749	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267750	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267754	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299921	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299923	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299924	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299925	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299928	0.98[ASN][1000 genomes]
rs4899660	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899661	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903614	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7157356	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021376	0.96[ASN][1000 genomes]
rs8021660	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	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
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
2	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
4	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78066000-78079600	Weak transcription	Dnd41	blood
6	chr14:78066800-78078400	Weak transcription	NHLF	lung
7	chr14:78067000-78078200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:78070200-78081600	Weak transcription	Liver	Liver
10	chr14:78070400-78078200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:78070400-78078400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:78070400-78079800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:78070400-78081400	Weak transcription	Fetal Muscle Leg	muscle
14	chr14:78070600-78078200	Weak transcription	NH-A	brain
15	chr14:78070600-78078200	Weak transcription	Osteobl	bone
16	chr14:78070600-78078400	Weak transcription	NHDF-Ad	bronchial
17	chr14:78070600-78081400	Weak transcription	Ovary	ovary
18	chr14:78070600-78081600	Weak transcription	Esophagus	oesophagus
19	chr14:78072200-78078200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:78072200-78078400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:78072400-78081200	Weak transcription	Fetal Heart	heart
22	chr14:78072400-78081600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:78072600-78078400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:78072800-78078200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:78072800-78078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:78072800-78081400	Weak transcription	Colonic Mucosa	Colon
27	chr14:78073000-78078400	Weak transcription	HepG2	liver
28	chr14:78073400-78078400	Weak transcription	Small Intestine	intestine
29	chr14:78073400-78081600	Weak transcription	Psoas Muscle	Psoas
30	chr14:78074200-78078600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:78074200-78081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:78074400-78078400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:78074600-78078400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:78074600-78078400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:78074600-78079400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:78074600-78079600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:78074600-78081200	Weak transcription	Fetal Intestine Large	intestine
38	chr14:78074600-78081400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:78074600-78081400	Weak transcription	Right Atrium	heart
40	chr14:78074600-78081600	Weak transcription	Fetal Thymus	thymus
41	chr14:78074800-78078400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:78074800-78078600	Weak transcription	Brain Anterior Caudate	brain
43	chr14:78074800-78081400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:78075000-78078400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:78075000-78078400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:78075000-78078600	Weak transcription	Brain Angular Gyrus	brain
47	chr14:78075000-78078600	Weak transcription	Fetal Kidney	kidney
48	chr14:78075000-78079600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:78075000-78079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:78075200-78078400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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