Variant report

Variant	rs1275678
Chromosome Location	chr14:69801864-69801865
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69800242..69802795-chr14:69820027..69823716,5	MCF-7	breast:
2	chr14:69799650..69801547-chr14:69801660..69803679,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1147463	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1147465	0.87[ASN][1000 genomes]
rs1275679	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1275681	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1275683	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1275684	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1275685	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1275687	0.83[ASN][1000 genomes]
rs12879377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12894211	0.88[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1290036	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456334	chr14:69793624-69831037	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564966	chr14:69793624-69831037	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69788800-69810400	Weak transcription	NHDF-Ad	bronchial
2	chr14:69791000-69817400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69791400-69802000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:69792200-69812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:69792600-69805800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:69793400-69818800	Weak transcription	Spleen	Spleen
7	chr14:69793400-69821200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:69793400-69822600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:69793600-69805800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:69793600-69806200	Weak transcription	Fetal Intestine Large	intestine
11	chr14:69795400-69805400	Weak transcription	Fetal Intestine Small	intestine
12	chr14:69795400-69805600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:69795600-69805200	Weak transcription	Fetal Brain Female	brain
14	chr14:69798200-69802800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:69798200-69809400	Weak transcription	Pancreas	Pancrea
16	chr14:69798800-69806200	Weak transcription	Left Ventricle	heart
17	chr14:69800000-69803400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69800200-69802000	Strong transcription	Fetal Muscle Leg	muscle
19	chr14:69800400-69804400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:69800600-69802800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr14:69800800-69807400	Weak transcription	Fetal Stomach	stomach
22	chr14:69800800-69815200	Weak transcription	Brain Germinal Matrix	brain
23	chr14:69800800-69821800	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:69801000-69804200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:69801000-69805400	Weak transcription	Brain Anterior Caudate	brain
26	chr14:69801200-69812000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:69801400-69804600	Weak transcription	Right Ventricle	heart
28	chr14:69801400-69805200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:69801600-69803000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr14:69801600-69807800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:69801800-69802000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr14:69801800-69802200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:69801800-69802600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:69801800-69802600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:69801800-69802800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:69801800-69802800	Enhancers	HMEC	breast
37	chr14:69801800-69802800	Bivalent Enhancer	NHEK	skin
38	chr14:69801800-69803000	Enhancers	Fetal Thymus	thymus
39	chr14:69801800-69803200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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