Variant report

Variant	rs17458583
Chromosome Location	chr14:35762501-35762502
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: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	chr14:35757780..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	chr14:35701125..35703592-chr14:35762146..35764422,2	MCF-7	breast:
5	chr14:35761890..35767767-chr14:35871223..35875046,8	K562	blood:
6	chr14:35761190..35763920-chr14:35872521..35874914,4	K562	blood:
7	chr14:35745478..35748219-chr14:35761998..35763705,2	MCF-7	breast:
8	chr14:35760513..35762912-chr14:35858124..35860393,3	K562	blood:
9	chr14:35760689..35762512-chr8:131454589..131456596,2	MCF-7	breast:
10	chr14:35757192..35766588-chr14:35865950..35877395,53	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction
ENSG00000240023	Chromatin interaction
ENSG00000153317	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000256243	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10130007	0.82[AFR][1000 genomes]
rs10132938	0.84[AFR][1000 genomes]
rs10133402	0.80[YRI][hapmap]
rs10134120	0.85[CEU][hapmap]
rs10135636	0.84[EUR][1000 genomes]
rs10137440	0.82[AFR][1000 genomes]
rs10140180	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140636	0.82[AFR][1000 genomes]
rs10140819	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10140985	0.82[AFR][1000 genomes]
rs10141237	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10141688	0.82[AFR][1000 genomes]
rs10142113	1.00[EUR][1000 genomes]
rs10144186	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146661	0.82[AFR][1000 genomes]
rs10148143	0.80[YRI][hapmap];0.84[AFR][1000 genomes]
rs10148234	0.80[YRI][hapmap]
rs10148868	0.80[YRI][hapmap];0.82[AFR][1000 genomes]
rs10151128	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10467708	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10715	0.82[AFR][1000 genomes]
rs11547365	0.84[AFR][1000 genomes]
rs11847892	1.00[CEU][hapmap]
rs12323542	0.80[YRI][hapmap];0.82[AFR][1000 genomes]
rs17103110	0.85[CEU][hapmap]
rs17597267	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597281	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2277460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2415281	0.82[AFR][1000 genomes]
rs28460322	0.82[AFR][1000 genomes]
rs28461608	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28522717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28714617	0.81[EUR][1000 genomes]
rs4982257	0.83[EUR][1000 genomes]
rs60707741	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7140912	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7144747	1.00[CEU][hapmap]
rs7154775	0.82[AFR][1000 genomes]
rs7158019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8004205	0.82[AFR][1000 genomes]
rs8012896	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017330	0.89[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017676	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9322944	0.80[YRI][hapmap];0.84[AFR][1000 genomes]
rs9806058	1.00[CEU][hapmap];0.84[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	chr14:35760600-35762600	Active TSS	Small Intestine	intestine
4	chr14:35760600-35762800	Active TSS	Right Ventricle	heart
5	chr14:35760600-35763000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:35760600-35763000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:35760600-35763400	Active TSS	Fetal Intestine Small	intestine
8	chr14:35760600-35763600	Active TSS	Fetal Intestine Large	intestine
9	chr14:35760600-35763800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:35760600-35765200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:35760800-35762600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:35760800-35762600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:35760800-35762600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:35760800-35762600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:35760800-35762600	Active TSS	Colonic Mucosa	Colon
16	chr14:35760800-35762600	Active TSS	Esophagus	oesophagus
17	chr14:35760800-35762600	Active TSS	HUVEC	blood vessel
18	chr14:35760800-35762800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:35760800-35762800	Active TSS	Aorta	Aorta
20	chr14:35760800-35763000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr14:35760800-35763000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr14:35760800-35763000	Active TSS	Fetal Muscle Leg	muscle
23	chr14:35760800-35763000	Active TSS	HMEC	breast
24	chr14:35760800-35763000	Active TSS	NHDF-Ad	bronchial
25	chr14:35760800-35763000	Active TSS	NHEK	skin
26	chr14:35760800-35763200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:35760800-35763200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr14:35760800-35763400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:35760800-35763400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr14:35760800-35763400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:35760800-35763400	Active TSS	Left Ventricle	heart
32	chr14:35760800-35763400	Active TSS	Psoas Muscle	Psoas
33	chr14:35760800-35763400	Active TSS	Right Atrium	heart
34	chr14:35760800-35763400	Active TSS	Stomach Smooth Muscle	stomach
35	chr14:35760800-35763400	Active TSS	A549	lung
36	chr14:35760800-35763400	Active TSS	HSMMtube	muscle
37	chr14:35760800-35763600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr14:35760800-35763600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr14:35760800-35763600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr14:35760800-35763600	Active TSS	Hela-S3	cervix
41	chr14:35760800-35763600	Active TSS	HSMM	muscle
42	chr14:35760800-35763600	Active TSS	K562	blood
43	chr14:35760800-35763800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:35760800-35764000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr14:35760800-35764000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:35760800-35764200	Active TSS	GM12878-XiMat	blood
47	chr14:35761000-35762600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:35761000-35762600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:35761000-35762600	Active TSS	Gastric	stomach
50	chr14:35761000-35762600	Active TSS	Lung	lung

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