Variant report

Variant	rs1322986
Chromosome Location	chr9:14244413-14244414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:43092281..43092930-chr9:14244099..14244599,2	MCF-7	breast:
2	chr8:43092744..43093495-chr9:14244119..14245100,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10961441	0.84[AMR][1000 genomes]
rs10961443	0.83[AMR][1000 genomes]
rs10961444	0.86[AMR][1000 genomes]
rs11788974	1.00[ASN][1000 genomes]
rs11789657	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11794535	1.00[ASN][1000 genomes]
rs1322985	0.82[ASW][hapmap];0.83[MEX][hapmap]
rs1322987	0.96[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931499	0.81[CEU][hapmap];1.00[CHD][hapmap]
rs62532760	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7040053	0.94[GIH][hapmap];0.94[MEX][hapmap];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv892598	chr9:14234315-14274950	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14221200-14245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:14224400-14246800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr9:14236400-14245400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:14238400-14246200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:14238800-14245600	Weak transcription	Placenta	Placenta
6	chr9:14238800-14246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:14238800-14246200	Weak transcription	Aorta	Aorta
8	chr9:14238800-14249800	Weak transcription	Fetal Intestine Small	intestine
9	chr9:14238800-14250000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:14239000-14245000	Weak transcription	HSMM	muscle
11	chr9:14239600-14246000	Enhancers	HUVEC	blood vessel
12	chr9:14239800-14245000	Weak transcription	Osteobl	bone
13	chr9:14239800-14251200	Weak transcription	Hela-S3	cervix
14	chr9:14240600-14244800	Weak transcription	HMEC	breast
15	chr9:14241000-14244800	Weak transcription	Psoas Muscle	Psoas
16	chr9:14241000-14246400	Weak transcription	Spleen	Spleen
17	chr9:14241000-14249800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:14241000-14250000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:14241200-14244600	Weak transcription	Liver	Liver
20	chr9:14241200-14244800	Weak transcription	Right Ventricle	heart
21	chr9:14241200-14244800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:14241200-14245000	Enhancers	Fetal Brain Female	brain
23	chr9:14241200-14245400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:14241200-14245600	Weak transcription	Left Ventricle	heart
25	chr9:14241200-14245600	Weak transcription	Ovary	ovary
26	chr9:14241200-14246200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:14241200-14246200	Weak transcription	Right Atrium	heart
28	chr9:14241200-14246400	Weak transcription	Brain Anterior Caudate	brain
29	chr9:14241200-14246400	Weak transcription	Gastric	stomach
30	chr9:14241200-14247000	Weak transcription	Fetal Stomach	stomach
31	chr9:14241200-14247200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr9:14241200-14247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:14241200-14247400	Weak transcription	Brain Substantia Nigra	brain
34	chr9:14241200-14247600	Enhancers	Fetal Heart	heart
35	chr9:14241200-14247800	Weak transcription	Pancreas	Pancrea
36	chr9:14241200-14249600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:14241400-14244800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:14241400-14245000	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:14241400-14246200	Weak transcription	NHEK	skin
40	chr9:14241400-14247200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:14241400-14249800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:14241400-14251000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr9:14241400-14251000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr9:14241400-14251200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr9:14241800-14244800	Enhancers	Fetal Lung	lung
46	chr9:14242000-14245200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:14242200-14244600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:14242800-14249400	Weak transcription	Brain Angular Gyrus	brain
49	chr9:14243200-14244800	Weak transcription	Brain Germinal Matrix	brain
50	chr9:14243200-14245800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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