Variant report

Variant	rs17512725
Chromosome Location	chr14:35803243-35803244
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 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	chr14:35698279..35702159-chr14:35801289..35806332,5	MCF-7	breast:
4	chr14:35767852..35773242-chr14:35799435..35804534,8	MCF-7	breast:
5	chr14:35778400..35782010-chr14:35800342..35803588,4	MCF-7	breast:
6	chr14:35797442..35799693-chr14:35801625..35803378,2	K562	blood:
7	chr14:35801385..35810310-chr14:35830739..35838852,15	K562	blood:
8	chr14:35759417..35767612-chr14:35799689..35808998,23	MCF-7	breast:
9	chr14:35729678..35732592-chr14:35800120..35803444,3	MCF-7	breast:
10	chr14:35778351..35785006-chr14:35799640..35807255,11	MCF-7	breast:
11	chr14:35801529..35804372-chr14:35808012..35809578,2	K562	blood:
12	chr14:35802904..35803808-chr14:35875773..35876572,4	K562	blood:
13	chr14:35716423..35718490-chr14:35802705..35806298,3	MCF-7	breast:
14	chr14:35702282..35704520-chr14:35800753..35803790,5	MCF-7	breast:
15	chr14:35736271..35738491-chr14:35800943..35803870,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240392	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000265530	Chromatin interaction
ENSG00000258860	Chromatin interaction
ENSG00000100902	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10134120	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10137628	0.90[EUR][1000 genomes]
rs10438061	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11845412	0.83[EUR][1000 genomes]
rs17103097	1.00[CEU][hapmap]
rs17103098	1.00[CEU][hapmap]
rs17103110	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17457389	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17457568	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17458137	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17458214	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17458367	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17458562	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458715	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17513024	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17535082	1.00[CEU][hapmap]
rs17536892	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17536948	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17537213	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17537248	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17597246	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17597667	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17598437	0.88[EUR][1000 genomes]
rs17598701	0.85[EUR][1000 genomes]
rs17598816	0.85[EUR][1000 genomes]
rs2057336	0.85[EUR][1000 genomes]
rs2057339	0.85[EUR][1000 genomes]
rs28510695	0.90[EUR][1000 genomes]
rs4982256	0.92[EUR][1000 genomes]
rs6571711	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7140912	1.00[CEU][hapmap]
rs7147426	1.00[CEU][hapmap]
rs7150752	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7151763	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7156874	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7159008	1.00[CEU][hapmap]
rs8015909	0.94[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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35784800-35804600	Weak transcription	Ovary	ovary
2	chr14:35784800-35804600	Weak transcription	Psoas Muscle	Psoas
3	chr14:35788000-35804600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:35788600-35805800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:35789000-35804600	Weak transcription	Brain Anterior Caudate	brain
6	chr14:35800000-35815000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:35800600-35803600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:35800600-35803800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:35800600-35803800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:35800600-35804000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:35800600-35805000	Enhancers	Fetal Intestine Large	intestine
12	chr14:35800600-35807000	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:35800600-35807200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:35800600-35807400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:35800600-35814400	Enhancers	Placenta	Placenta
16	chr14:35800800-35803400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:35800800-35803400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:35800800-35803400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:35800800-35803400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:35800800-35803400	Enhancers	Fetal Lung	lung
21	chr14:35800800-35803600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr14:35800800-35803600	Enhancers	GM12878-XiMat	blood
23	chr14:35800800-35803800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:35800800-35803800	Enhancers	Colonic Mucosa	Colon
25	chr14:35800800-35804000	Enhancers	Gastric	stomach
26	chr14:35800800-35804000	Enhancers	HMEC	breast
27	chr14:35800800-35804000	Enhancers	K562	blood
28	chr14:35800800-35804200	Enhancers	Esophagus	oesophagus
29	chr14:35800800-35804400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:35800800-35804400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr14:35800800-35804600	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:35800800-35804600	Enhancers	A549	lung
33	chr14:35800800-35805000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr14:35800800-35806000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:35800800-35806600	Enhancers	Stomach Mucosa	stomach
36	chr14:35800800-35807000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr14:35800800-35812200	Enhancers	Fetal Thymus	thymus
38	chr14:35800800-35813800	Enhancers	Lung	lung
39	chr14:35801000-35803400	Genic enhancers	Fetal Intestine Small	intestine
40	chr14:35801000-35804000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:35801000-35804000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:35801000-35805200	Enhancers	Adipose Nuclei	Adipose
43	chr14:35801000-35806000	Enhancers	Fetal Muscle Trunk	muscle
44	chr14:35801000-35810400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:35801200-35803400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr14:35801200-35803400	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr14:35801200-35807600	Enhancers	Spleen	Spleen
48	chr14:35801400-35803800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr14:35801400-35805800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:35801400-35805800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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