Variant report

Variant	rs2415288
Chromosome Location	chr14:35807508-35807509
allele	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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35759879..35772372-chr14:35797131..35808840,38	MCF-7	breast:
2	chr14:35802795..35808702-chr14:35869869..35875069,9	K562	blood:
3	chr14:35806177..35808702-chr14:35872439..35875223,3	K562	blood:
4	chr14:35804902..35807934-chr14:35810651..35813744,3	K562	blood:
5	chr14:35451847..35453370-chr14:35805990..35808420,2	MCF-7	breast:
6	chr14:35799325..35802587-chr14:35803466..35807668,8	K562	blood:
7	chr14:35781062..35784992-chr14:35805086..35807917,3	MCF-7	breast:
8	chr14:35773332..35776624-chr14:35804894..35807958,4	MCF-7	breast:
9	chr14:35801385..35810310-chr14:35830739..35838852,15	K562	blood:
10	chr14:35759417..35767612-chr14:35799689..35808998,23	MCF-7	breast:
11	chr14:35589625..35592428-chr14:35805813..35807817,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100883	Chromatin interaction
ENSG00000258860	Chromatin interaction
ENSG00000265530	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11156881	1.00[AFR][1000 genomes]
rs17114075	0.88[EUR][1000 genomes]
rs4981287	0.90[EUR][1000 genomes]
rs4982253	0.84[EUR][1000 genomes]
rs56173141	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56797330	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72666636	0.87[EUR][1000 genomes]
rs72666640	0.89[EUR][1000 genomes]
rs743225	1.00[AFR][1000 genomes];0.86[EUR][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	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active 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	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35800000-35815000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:35800600-35814400	Enhancers	Placenta	Placenta
3	chr14:35800800-35812200	Enhancers	Fetal Thymus	thymus
4	chr14:35800800-35813800	Enhancers	Lung	lung
5	chr14:35801000-35810400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:35801200-35807600	Enhancers	Spleen	Spleen
7	chr14:35801400-35810200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:35802800-35809000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr14:35802800-35810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:35803000-35810400	Enhancers	Liver	Liver
11	chr14:35803200-35807600	Enhancers	Left Ventricle	heart
12	chr14:35803400-35809000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:35803600-35808000	Weak transcription	Thymus	Thymus
14	chr14:35803600-35808600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:35803600-35808600	Weak transcription	GM12878-XiMat	blood
16	chr14:35803600-35808800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:35803800-35808600	Weak transcription	Primary T cells from cord blood	blood
18	chr14:35803800-35808800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:35803800-35808800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:35804000-35808200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:35804000-35808600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:35804000-35808600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:35804400-35807600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:35804400-35807600	Enhancers	Colon Smooth Muscle	Colon
25	chr14:35804600-35810800	Enhancers	Esophagus	oesophagus
26	chr14:35804800-35808200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:35805400-35807600	Enhancers	Fetal Intestine Small	intestine
28	chr14:35805400-35808000	Enhancers	Fetal Intestine Large	intestine
29	chr14:35805600-35807600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:35806000-35808800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr14:35806000-35810200	Enhancers	Adipose Nuclei	Adipose
33	chr14:35806200-35807600	Enhancers	HMEC	breast
34	chr14:35806200-35808800	Enhancers	Duodenum Mucosa	Duodenum
35	chr14:35806200-35812400	Enhancers	Ovary	ovary
36	chr14:35806400-35810600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:35806400-35810800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:35806600-35807600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:35806600-35808200	Weak transcription	Primary B cells from cord blood	blood
40	chr14:35806600-35808600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:35806600-35809000	Weak transcription	HSMMtube	muscle
42	chr14:35806600-35810000	Weak transcription	Fetal Heart	heart
43	chr14:35806600-35810200	Weak transcription	Brain Anterior Caudate	brain
44	chr14:35806800-35808600	Enhancers	NHEK	skin
45	chr14:35806800-35810400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:35806800-35816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:35806800-35816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:35807000-35807600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:35807000-35807600	Enhancers	Stomach Mucosa	stomach
50	chr14:35807000-35807600	Flanking Active TSS	HepG2	liver

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