Variant report

Variant	rs17458562
Chromosome Location	chr14:35761967-35761968
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35757780..35767592-chr14:35866063..35878024,53	MCF-7	breast:
2	chr14:35701633..35705447-chr14:35760005..35763215,4	MCF-7	breast:
3	chr14:35761955..35763950-chr14:35787734..35790332,2	K562	blood:
4	chr14:35761890..35767767-chr14:35871223..35875046,8	K562	blood:
5	chr14:35761190..35763920-chr14:35872521..35874914,4	K562	blood:
6	chr14:35760513..35762912-chr14:35858124..35860393,3	K562	blood:
7	chr14:35760689..35762512-chr8:131454589..131456596,2	MCF-7	breast:
8	chr14:35757192..35766588-chr14:35865950..35877395,53	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000240023	Chromatin interaction
ENSG00000256243	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10134120	0.94[EUR][1000 genomes]
rs10137628	0.94[EUR][1000 genomes]
rs10138507	0.83[EUR][1000 genomes]
rs10438061	0.94[EUR][1000 genomes]
rs17103097	0.83[EUR][1000 genomes]
rs17103098	0.83[EUR][1000 genomes]
rs17103110	0.88[EUR][1000 genomes]
rs17456102	1.00[AFR][1000 genomes]
rs17457389	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17457568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458367	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17512725	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17513024	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17535082	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17536892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17536948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17537213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17537248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597667	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17598437	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17598701	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17598816	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2057336	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2057339	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28446606	0.83[EUR][1000 genomes]
rs28472413	0.83[EUR][1000 genomes]
rs28510695	0.94[EUR][1000 genomes]
rs28549180	0.82[EUR][1000 genomes]
rs45573840	1.00[AFR][1000 genomes]
rs4982256	0.88[EUR][1000 genomes]
rs6571711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143518	1.00[AFR][1000 genomes]
rs7147426	0.83[EUR][1000 genomes]
rs7150752	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7151763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156874	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014945	1.00[AFR][1000 genomes]
rs8015909	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35759600-35763200	Active TSS	Fetal Kidney	kidney
2	chr14:35760400-35763400	Active TSS	Placenta	Placenta
3	chr14:35760600-35762200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:35760600-35762200	Active TSS	Fetal Brain Female	brain
5	chr14:35760600-35762400	Active TSS	Duodenum Mucosa	Duodenum
6	chr14:35760600-35762400	Active TSS	Fetal Stomach	stomach
7	chr14:35760600-35762600	Active TSS	Small Intestine	intestine
8	chr14:35760600-35762800	Active TSS	Right Ventricle	heart
9	chr14:35760600-35763000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:35760600-35763000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:35760600-35763400	Active TSS	Fetal Intestine Small	intestine
12	chr14:35760600-35763600	Active TSS	Fetal Intestine Large	intestine
13	chr14:35760600-35763800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:35760600-35765200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:35760800-35762000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr14:35760800-35762000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr14:35760800-35762200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:35760800-35762200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr14:35760800-35762200	Active TSS	Brain Anterior Caudate	brain
20	chr14:35760800-35762200	Active TSS	Brain Cingulate Gyrus	brain
21	chr14:35760800-35762200	Active TSS	Brain Hippocampus Middle	brain
22	chr14:35760800-35762200	Active TSS	Brain Substantia Nigra	brain
23	chr14:35760800-35762200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr14:35760800-35762200	Active TSS	Pancreas	Pancrea
25	chr14:35760800-35762200	Active TSS	Rectal Smooth Muscle	rectum
26	chr14:35760800-35762400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:35760800-35762400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:35760800-35762400	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr14:35760800-35762400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr14:35760800-35762400	Active TSS	Brain Angular Gyrus	brain
31	chr14:35760800-35762400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr14:35760800-35762400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:35760800-35762400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr14:35760800-35762400	Active TSS	Fetal Lung	lung
35	chr14:35760800-35762400	Active TSS	NH-A	brain
36	chr14:35760800-35762400	Active TSS	Osteobl	bone
37	chr14:35760800-35762600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:35760800-35762600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr14:35760800-35762600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:35760800-35762600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:35760800-35762600	Active TSS	Colonic Mucosa	Colon
42	chr14:35760800-35762600	Active TSS	Esophagus	oesophagus
43	chr14:35760800-35762600	Active TSS	HUVEC	blood vessel
44	chr14:35760800-35762800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr14:35760800-35762800	Active TSS	Aorta	Aorta
46	chr14:35760800-35763000	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr14:35760800-35763000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr14:35760800-35763000	Active TSS	Fetal Muscle Leg	muscle
49	chr14:35760800-35763000	Active TSS	HMEC	breast
50	chr14:35760800-35763000	Active TSS	NHDF-Ad	bronchial

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