Variant report

Variant	rs62006258
Chromosome Location	chr14:103838909-103838910
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103825142..103827510-chr14:103836873..103839031,2	MCF-7	breast:
2	chr14:103819429..103822833-chr14:103836340..103840943,4	MCF-7	breast:
3	chr14:103811082..103813632-chr14:103837787..103840211,3	K562	blood:
4	chr14:103800531..103803016-chr14:103837222..103839153,2	MCF-7	breast:
5	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
6	chr14:103837532..103839266-chr14:103865081..103866860,2	MCF-7	breast:
7	chr14:103836563..103839985-chr14:103850679..103852849,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100664	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000272533	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12589817	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2403171	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2403172	0.91[ASN][1000 genomes]
rs56982532	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58153827	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6575977	0.90[ASN][1000 genomes]
rs6575979	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149169	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8013228	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8014669	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016463	0.86[EUR][1000 genomes]
rs959083	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103837600-103839600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:103837600-103839800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:103837600-103839800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:103837600-103840000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:103838200-103840000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:103838200-103840000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:103838400-103839200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:103838400-103839600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:103838400-103839600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:103838400-103839600	Enhancers	Esophagus	oesophagus
11	chr14:103838400-103839600	Enhancers	Spleen	Spleen
12	chr14:103838400-103839600	Enhancers	HMEC	breast
13	chr14:103838400-103839600	Enhancers	NHDF-Ad	bronchial
14	chr14:103838400-103839600	Enhancers	NHLF	lung
15	chr14:103838400-103839800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:103838400-103839800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:103838400-103839800	Enhancers	NHEK	skin
18	chr14:103838600-103839000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:103838600-103839200	Enhancers	Osteobl	bone
20	chr14:103838600-103839400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:103838600-103839400	Enhancers	HepG2	liver
22	chr14:103838600-103839600	Enhancers	HUVEC	blood vessel
23	chr14:103838600-103839600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr14:103838600-103839800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:103838600-103839800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:103838800-103839000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:103838800-103839000	Flanking Active TSS	A549	lung
28	chr14:103838800-103839000	Flanking Active TSS	Hela-S3	cervix
29	chr14:103838800-103839200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:103838800-103839200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:103838800-103839400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:103838800-103839400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:103838800-103839400	Enhancers	HSMMtube	muscle
34	chr14:103838800-103839600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:103838800-103839600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr14:103838800-103839600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:103838800-103839600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:103838800-103839600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr14:103838800-103839600	Flanking Active TSS	NH-A	brain
40	chr14:103838800-103839800	Enhancers	K562	blood
41	chr14:103838800-103840000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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