Variant report

Variant	rs4462527
Chromosome Location	chr14:67406702-67406703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67406512..67408916-chr14:67410508..67412779,2	MCF-7	breast:
2	chr14:67403550..67406227-chr14:67406417..67408734,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11158650	1.00[AFR][1000 genomes]
rs34654604	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1838724	chr14:67232573-67527235	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67373000-67407200	Weak transcription	Gastric	stomach
2	chr14:67381400-67407200	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:67381400-67408000	Weak transcription	Brain Anterior Caudate	brain
4	chr14:67381400-67411000	Weak transcription	Brain Angular Gyrus	brain
5	chr14:67383600-67408000	Weak transcription	Primary T cells from cord blood	blood
6	chr14:67383600-67410000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:67383800-67409000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:67384000-67406800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:67384200-67406800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:67387800-67411400	Weak transcription	Fetal Stomach	stomach
11	chr14:67389600-67408000	Weak transcription	Colonic Mucosa	Colon
12	chr14:67391200-67406800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:67391200-67409800	Weak transcription	Fetal Kidney	kidney
14	chr14:67395200-67409000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:67399000-67407000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:67399600-67407200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:67399600-67411400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:67399800-67409800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:67400000-67406800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:67400000-67410000	Weak transcription	NHEK	skin
21	chr14:67400400-67406800	Weak transcription	A549	lung
22	chr14:67400800-67408400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:67404000-67407200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:67404800-67406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:67404800-67407000	Weak transcription	Psoas Muscle	Psoas
26	chr14:67405000-67411800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:67405200-67416400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:67405400-67409200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:67405800-67407200	Strong transcription	Fetal Intestine Large	intestine
30	chr14:67405800-67407400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:67405800-67416400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr14:67406000-67408800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:67406000-67414600	ZNF genes & repeats	Liver	Liver
34	chr14:67406000-67416200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr14:67406200-67406800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:67406200-67406800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr14:67406200-67406800	ZNF genes & repeats	Ovary	ovary
38	chr14:67406200-67407200	Strong transcription	Brain Cingulate Gyrus	brain
39	chr14:67406200-67407200	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr14:67406200-67407400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:67406200-67407400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr14:67406200-67407600	ZNF genes & repeats	Aorta	Aorta
43	chr14:67406200-67407600	Strong transcription	Left Ventricle	heart
44	chr14:67406200-67407600	ZNF genes & repeats	Lung	lung
45	chr14:67406200-67407600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr14:67406200-67408800	Strong transcription	Right Ventricle	heart
47	chr14:67406200-67414600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr14:67406200-67416400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr14:67406400-67406800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr14:67406400-67406800	ZNF genes & repeats	Colon Smooth Muscle	Colon

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