Variant report

Variant	rs8013280
Chromosome Location	chr14:67878125-67878126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67869261..67871633-chr14:67875881..67878692,2	MCF-7	breast:
2	chr14:67826231..67828926-chr14:67875874..67878480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134001	Chromatin interaction
ENSG00000100554	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10148577	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57402080	0.80[ASN][1000 genomes]
rs59231326	0.86[ASN][1000 genomes]
rs9323497	0.90[TSI][hapmap]
rs9323498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
8	nsv1319	chr14:67863561-67908725	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
9	esv3487440	chr14:67863754-67892047	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	esv3487442	chr14:67863758-67892045	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67850200-67878400	Weak transcription	Lung	lung
2	chr14:67862800-67878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:67875400-67878400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:67875800-67878400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:67876200-67878400	Flanking Active TSS	Hela-S3	cervix
6	chr14:67876200-67878600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:67876200-67879000	Enhancers	Fetal Heart	heart
8	chr14:67876800-67878400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr14:67876800-67878400	Weak transcription	Right Atrium	heart
10	chr14:67876800-67878600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr14:67877200-67878200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:67877800-67878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:67877800-67878200	Flanking Active TSS	NHEK	skin
14	chr14:67877800-67878400	Flanking Active TSS	HMEC	breast
15	chr14:67877800-67878600	Enhancers	Placenta	Placenta
16	chr14:67877800-67879600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:67877800-67880200	Weak transcription	K562	blood
18	chr14:67878000-67878200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:67878000-67878200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:67878000-67878200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:67878000-67878200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr14:67878000-67878200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:67878000-67878200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr14:67878000-67878200	Flanking Active TSS	Colonic Mucosa	Colon
25	chr14:67878000-67878200	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr14:67878000-67878200	Flanking Active TSS	Gastric	stomach
27	chr14:67878000-67878200	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
28	chr14:67878000-67878200	Flanking Bivalent TSS/Enh	Sigmoid Colon	Sigmoid Colon
29	chr14:67878000-67878200	Flanking Active TSS	Stomach Mucosa	stomach
30	chr14:67878000-67878200	Enhancers	A549	lung
31	chr14:67878000-67878400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:67878000-67878400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr14:67878000-67878400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:67878000-67878400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:67878000-67878400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:67878000-67878400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr14:67878000-67878400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:67878000-67878400	Enhancers	Liver	Liver
39	chr14:67878000-67878400	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr14:67878000-67878400	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr14:67878000-67878400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr14:67878000-67878400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr14:67878000-67878400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr14:67878000-67878400	Enhancers	HUVEC	blood vessel
45	chr14:67878000-67878600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr14:67878000-67878600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
47	chr14:67878000-67879000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
48	chr14:67878000-67879200	Active TSS	Esophagus	oesophagus
49	chr14:67878000-67879200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr14:67878000-67879200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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