Variant report

Variant	rs8014985
Chromosome Location	chr14:21324443-21324444
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21304507..21305551-chr14:21323522..21324508,13	MCF-7	breast:
2	chr14:21307828..21309542-chr14:21323768..21326232,2	MCF-7	breast:
3	chr14:21314410..21316763-chr14:21323540..21325597,2	K562	blood:
4	chr14:21155907..21157723-chr14:21323708..21325549,2	MCF-7	breast:
5	chr14:21164738..21167054-chr14:21324271..21326741,2	MCF-7	breast:
6	chr14:21306953..21309140-chr14:21323464..21326358,2	K562	blood:
7	chr14:21165600..21167287-chr14:21323145..21324514,10	MCF-7	breast:
8	chr14:21225835..21226856-chr14:21323577..21324461,4	K562	blood:
9	chr14:21166775..21167518-chr14:21323866..21324554,2	MCF-7	breast:
10	chr14:21165305..21166567-chr14:21323518..21324499,14	K562	blood:
11	chr14:21165605..21166547-chr14:21323286..21324779,12	MCF-7	breast:
12	chr14:21302824..21303739-chr14:21323545..21324477,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214274	Chromatin interaction
ENSG00000258818	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10139443	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10140301	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10144045	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10148191	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10148209	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10162308	0.81[ASN][1000 genomes]
rs10872858	0.83[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11623919	0.86[ASN][1000 genomes]
rs11845945	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11850614	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12878116	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17182206	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17182243	0.84[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs17254436	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17254450	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs17254457	0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1889771	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1889772	0.94[ASN][1000 genomes]
rs28398970	0.94[ASN][1000 genomes]
rs28429822	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28446693	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28522687	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28580637	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61978607	0.94[ASN][1000 genomes]
rs68014001	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8011501	0.94[ASN][1000 genomes]
rs8011664	0.83[EUR][1000 genomes]
rs8016193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8020174	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs983671	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
7	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21317200-21325800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:21317400-21326000	Weak transcription	Fetal Intestine Small	intestine
3	chr14:21317800-21325800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:21318000-21325600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:21324000-21325000	Weak transcription	Stomach Mucosa	stomach
6	chr14:21324000-21325400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:21324000-21325400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:21324000-21325600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:21324000-21325600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:21324000-21325600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:21324000-21325600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:21324000-21325600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr14:21324000-21325600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:21324000-21325800	Weak transcription	Liver	Liver
15	chr14:21324000-21325800	Weak transcription	Brain Angular Gyrus	brain
16	chr14:21324000-21325800	Weak transcription	Brain Anterior Caudate	brain
17	chr14:21324000-21325800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:21324000-21325800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:21324000-21325800	Weak transcription	Brain Substantia Nigra	brain
20	chr14:21324000-21325800	Weak transcription	Fetal Intestine Large	intestine
21	chr14:21324000-21325800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:21324000-21326000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:21324000-21326000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:21324400-21325400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:21324400-21325600	Weak transcription	K562	blood
26	chr14:21324400-21325800	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:21324400-21325800	Weak transcription	A549	lung
28	chr14:21324400-21326200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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