Variant report

Variant	rs8009944
Chromosome Location	chr14:69039588-69039589
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: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	chr14:69034656..69036292-chr14:69039582..69041305,3	MCF-7	breast:
2	chr14:69036779..69038286-chr14:69038694..69040198,2	MCF-7	breast:
3	chr14:69037050..69041400-chr14:69041759..69045325,4	MCF-7	breast:
4	chr14:69028863..69039900-chr14:69256962..69265663,39	MCF-7	breast:
5	chr14:69035875..69039894-chr14:69250533..69252732,3	MCF-7	breast:
6	chr14:69037043..69039737-chr5:178416240..178417937,2	MCF-7	breast:
7	chr14:68775479..68777224-chr14:69038956..69041155,2	MCF-7	breast:
8	chr14:69033437..69035137-chr14:69037923..69040358,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10130694	0.88[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10148414	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11621880	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1290999	0.87[MEX][hapmap]
rs4902603	0.82[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55987972	0.86[AFR][1000 genomes]
rs6573842	0.83[ASW][hapmap];0.86[CEU][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.80[MKK][hapmap]
rs7146456	0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69030800-69041600	Weak transcription	NHLF	lung
2	chr14:69031200-69041800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:69032400-69041400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:69032800-69040800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:69033000-69039600	Weak transcription	Primary T cells from cord blood	blood
6	chr14:69033200-69041600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:69033600-69041600	Weak transcription	Hela-S3	cervix
8	chr14:69036400-69041000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr14:69036600-69039800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:69036800-69041400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:69036800-69052000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:69037000-69039600	Enhancers	HepG2	liver
13	chr14:69037000-69039800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:69037000-69041600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:69037000-69041600	Weak transcription	Psoas Muscle	Psoas
16	chr14:69037000-69041800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:69037000-69042000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:69037000-69052600	Weak transcription	Colonic Mucosa	Colon
19	chr14:69037200-69040400	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:69037200-69041600	Weak transcription	Ovary	ovary
21	chr14:69037200-69041600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:69037400-69040600	Weak transcription	Adipose Nuclei	Adipose
23	chr14:69037400-69041000	Weak transcription	Placenta	Placenta
24	chr14:69037400-69041200	Weak transcription	Brain Anterior Caudate	brain
25	chr14:69037400-69041400	Weak transcription	Fetal Lung	lung
26	chr14:69037400-69041600	Weak transcription	Fetal Heart	heart
27	chr14:69037400-69041600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:69037400-69042800	Weak transcription	Gastric	stomach
29	chr14:69037400-69042800	Weak transcription	Right Ventricle	heart
30	chr14:69037400-69042800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:69037400-69054000	Weak transcription	Fetal Kidney	kidney
32	chr14:69037600-69040000	Weak transcription	Fetal Thymus	thymus
33	chr14:69037800-69040400	Weak transcription	Lung	lung
34	chr14:69037800-69041600	Weak transcription	HUVEC	blood vessel
35	chr14:69037800-69042800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:69038000-69042600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:69038400-69041200	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:69038600-69039800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:69039200-69041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:69039200-69044400	Weak transcription	Liver	Liver
41	chr14:69039400-69039800	Enhancers	Spleen	Spleen
42	chr14:69039400-69042800	Weak transcription	Pancreas	Pancrea

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