Variant report

Variant	rs8003257
Chromosome Location	chr14:69406020-69406021
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
2	chr14:69375398..69378036-chr14:69403705..69406227,2	MCF-7	breast:
3	chr14:69391196..69393563-chr14:69405048..69407847,2	MCF-7	breast:
4	chr14:69404468..69406535-chr14:69406823..69410783,6	MCF-7	breast:
5	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
6	chr14:69395351..69398250-chr14:69405084..69406992,2	MCF-7	breast:
7	chr14:69404692..69406391-chr14:69468791..69470655,2	MCF-7	breast:
8	chr14:69404437..69408069-chr14:69415844..69420142,4	MCF-7	breast:
9	chr14:69402918..69410408-chr14:69410942..69415819,17	MCF-7	breast:
10	chr14:69388864..69393027-chr14:69403394..69408215,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17106638	0.99[AFR][1000 genomes]
rs57325880	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60020535	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61981584	0.87[ASN][1000 genomes]
rs61981589	0.99[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv456333	chr14:69392445-69415962	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv564965	chr14:69392445-69415962	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:69392800-69406200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:69393600-69406400	Weak transcription	Hela-S3	cervix
4	chr14:69394200-69422200	Weak transcription	Dnd41	blood
5	chr14:69396200-69408800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:69396400-69409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:69397600-69406400	Genic enhancers	HMEC	breast
8	chr14:69397800-69415200	Enhancers	Esophagus	oesophagus
9	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr14:69399400-69407600	Genic enhancers	NHEK	skin
11	chr14:69400000-69408400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:69400200-69416400	Enhancers	Pancreas	Pancrea
13	chr14:69400400-69417000	Enhancers	Fetal Muscle Leg	muscle
14	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
15	chr14:69401000-69407200	Enhancers	Brain Anterior Caudate	brain
16	chr14:69401200-69408400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:69401800-69412400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr14:69402200-69425200	Enhancers	Right Atrium	heart
20	chr14:69402400-69406200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:69402400-69406200	Genic enhancers	NHLF	lung
22	chr14:69402400-69406400	Enhancers	Aorta	Aorta
23	chr14:69402400-69406600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr14:69402400-69406800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:69402400-69407200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr14:69402400-69407200	Enhancers	Ovary	ovary
27	chr14:69402400-69407400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr14:69402400-69407400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:69402400-69407600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:69402400-69407800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:69402400-69409000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:69402400-69409800	Enhancers	Lung	lung
33	chr14:69402400-69414400	Enhancers	Adipose Nuclei	Adipose
34	chr14:69402400-69416400	Enhancers	Left Ventricle	heart
35	chr14:69402400-69423600	Enhancers	Fetal Heart	heart
36	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:69402600-69407000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr14:69402600-69410800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr14:69402600-69416600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:69403000-69407000	Enhancers	Gastric	stomach
41	chr14:69403400-69406400	Enhancers	HUVEC	blood vessel
42	chr14:69403400-69407000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:69403400-69407800	Enhancers	Colonic Mucosa	Colon
44	chr14:69403600-69409400	Enhancers	Brain Hippocampus Middle	brain
45	chr14:69403600-69409600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:69403600-69420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:69403800-69407400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr14:69403800-69408400	Enhancers	Fetal Intestine Large	intestine
49	chr14:69403800-69411400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr14:69404200-69407000	Enhancers	HUES48 Cell Line	embryonic stem cell

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