Variant report

Variant	rs390970
Chromosome Location	chr17:63103192-63103193
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63035178..63037287-chr17:63102976..63105105,2	MCF-7	breast:
2	chr17:63101310..63103493-chr17:63108263..63110004,2	K562	blood:
3	chr17:63103004..63106074-chr17:63118329..63120568,5	MCF-7	breast:
4	chr17:62965395..62967905-chr17:63101570..63104162,3	MCF-7	breast:
5	chr17:63097331..63099925-chr17:63102764..63104387,2	MCF-7	breast:
6	chr17:63097236..63098868-chr17:63102813..63104467,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs299835	1.00[CEU][hapmap]
rs378764	0.84[YRI][hapmap];0.90[AFR][1000 genomes]
rs413223	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs444394	1.00[CHB][hapmap]
rs4790959	0.83[CHB][hapmap];0.83[YRI][hapmap]
rs62062530	0.93[ASN][1000 genomes]
rs986090	1.00[CEU][hapmap]

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	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv112229	chr17:63095123-63104894	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63097400-63112000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:63097600-63111800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr17:63097800-63107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:63097800-63107400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:63097800-63112200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:63099200-63104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr17:63099400-63104200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr17:63100600-63104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:63101400-63103200	Enhancers	Fetal Muscle Trunk	muscle
10	chr17:63101600-63103400	Enhancers	Brain Anterior Caudate	brain
11	chr17:63101600-63103400	Enhancers	Fetal Stomach	stomach
12	chr17:63101800-63103200	Enhancers	Pancreas	Pancrea
13	chr17:63101800-63103400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:63101800-63103400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:63101800-63104000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr17:63101800-63104200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:63101800-63104200	Enhancers	Brain Germinal Matrix	brain
18	chr17:63102000-63103400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:63102000-63103800	Enhancers	Fetal Brain Male	brain
20	chr17:63102200-63103200	Enhancers	Duodenum Mucosa	Duodenum
21	chr17:63102200-63103400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:63102200-63103400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:63102200-63103400	Enhancers	Fetal Heart	heart
24	chr17:63102200-63103400	Enhancers	Spleen	Spleen
25	chr17:63102200-63103400	Enhancers	NH-A	brain
26	chr17:63102200-63103400	Enhancers	NHLF	lung
27	chr17:63102200-63103600	Enhancers	NHDF-Ad	bronchial
28	chr17:63102200-63104000	Enhancers	Brain Angular Gyrus	brain
29	chr17:63102200-63104000	Enhancers	Fetal Muscle Leg	muscle
30	chr17:63102200-63104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr17:63102400-63103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:63102400-63103200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:63102400-63103200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:63102400-63103200	Enhancers	Esophagus	oesophagus
35	chr17:63102400-63103200	Enhancers	Left Ventricle	heart
36	chr17:63102400-63103200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr17:63102400-63103200	Enhancers	Right Atrium	heart
38	chr17:63102400-63103200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr17:63102400-63103400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:63102400-63103400	Enhancers	Liver	Liver
41	chr17:63102400-63103400	Enhancers	HSMM	muscle
42	chr17:63102400-63103800	Enhancers	Psoas Muscle	Psoas
43	chr17:63102400-63104000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:63102400-63104400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:63102400-63104400	Enhancers	HMEC	breast
46	chr17:63102400-63104400	Enhancers	NHEK	skin
47	chr17:63102600-63103200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:63102600-63103200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:63102600-63103200	Enhancers	Ovary	ovary
50	chr17:63102600-63103200	Enhancers	A549	lung

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