Variant report

Variant	rs6573893
Chromosome Location	chr14:70047167-70047168
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:8)
LncRNA
region (count:1)
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	chr14:70046589..70048780-chr14:70243227..70244805,2	MCF-7	breast:
2	chr14:70045745..70047839-chr14:70232582..70236616,4	K562	blood:
3	chr14:70046714..70047517-chr14:70175186..70175796,2	MCF-7	breast:
4	chr14:70046515..70047542-chr14:70193403..70194180,5	MCF-7	breast:
5	chr14:70044893..70047261-chr14:70192485..70195445,3	K562	blood:
6	chr14:70046299..70047841-chr14:70240558..70242484,2	K562	blood:
7	chr14:70046536..70047298-chr14:70193410..70194236,4	MCF-7	breast:
8	chr14:70001892..70002546-chr14:70046761..70047295,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf162-3	chr14:70046781-70047169	NONHSAT037534

No data

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10134217	0.82[EUR][1000 genomes]
rs10145804	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10149246	0.86[CHB][hapmap]
rs17764280	0.80[CEU][hapmap]
rs1885401	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2025132	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025133	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899300	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899301	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4899303	0.84[EUR][1000 genomes]
rs4899304	0.87[CEU][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs4899305	0.93[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902730	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4902733	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4902734	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902739	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573892	0.84[EUR][1000 genomes]
rs6573894	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140978	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142221	0.88[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7143193	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7147881	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7494244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927387	0.93[CEU][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs927389	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs927390	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9323528	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9788506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70041600-70060400	Weak transcription	Esophagus	oesophagus
2	chr14:70043800-70067200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70045800-70047400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:70045800-70052600	Weak transcription	Right Atrium	heart
5	chr14:70046000-70047400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:70046200-70047400	Enhancers	Fetal Intestine Large	intestine
7	chr14:70046200-70047400	Enhancers	HepG2	liver
8	chr14:70046200-70047400	Enhancers	Osteobl	bone
9	chr14:70046400-70047200	Enhancers	Duodenum Mucosa	Duodenum
10	chr14:70046400-70047400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:70046400-70047400	Enhancers	Liver	Liver
12	chr14:70046400-70047400	Enhancers	Fetal Intestine Small	intestine
13	chr14:70046400-70047400	Enhancers	Stomach Mucosa	stomach
14	chr14:70046400-70047400	Enhancers	K562	blood
15	chr14:70046600-70047400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:70046600-70047400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:70046800-70047200	Enhancers	Adipose Nuclei	Adipose
18	chr14:70046800-70047200	Enhancers	Pancreas	Pancrea
19	chr14:70046800-70047400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr14:70046800-70047400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:70046800-70047400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:70046800-70047600	Enhancers	Hela-S3	cervix
23	chr14:70046800-70048800	Weak transcription	NH-A	brain
24	chr14:70046800-70051600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:70047000-70047200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:70047000-70047400	Enhancers	Lung	lung
27	chr14:70047000-70048400	Weak transcription	Left Ventricle	heart

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