Variant report

Variant	rs73978969
Chromosome Location	chr17:17444790-17444791
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17444761..17447453-chr17:17453663..17455413,2	K562	blood:
2	chr17:17440432..17443332-chr17:17443891..17446677,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10401038	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651280	0.90[EUR][1000 genomes]
rs11654553	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11654777	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11658311	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13342397	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16961845	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28636952	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28652618	1.00[AMR][1000 genomes]
rs35301480	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35838363	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57304518	1.00[ASN][1000 genomes]
rs58167365	1.00[ASN][1000 genomes]
rs58494746	1.00[ASN][1000 genomes]
rs58729290	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59913959	1.00[ASN][1000 genomes]
rs60456540	1.00[ASN][1000 genomes]
rs60831194	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs70959697	1.00[ASN][1000 genomes]
rs70963009	1.00[ASN][1000 genomes]
rs70963012	1.00[ASN][1000 genomes]
rs7210978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215055	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222358	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7224725	1.00[AMR][1000 genomes]
rs7225421	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73296555	1.00[ASN][1000 genomes]
rs73296581	1.00[ASN][1000 genomes]
rs73298547	1.00[ASN][1000 genomes]
rs73298555	1.00[ASN][1000 genomes]
rs73298562	1.00[ASN][1000 genomes]
rs73298579	1.00[ASN][1000 genomes]
rs8064558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070432	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8074742	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8081961	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9890062	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9897362	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9903468	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9903503	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9904004	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9905032	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9905191	0.88[EUR][1000 genomes]
rs9910747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944423	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription 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	25 gene(s)	inside rSNPs	diseases
3	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	13 gene(s)	inside rSNPs	diseases
4	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv907743	chr17:17404586-17448589	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv907749	chr17:17417169-17448589	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
13	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
14	nsv907750	chr17:17439458-17460180	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
2	chr17:17419600-17447000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:17424600-17460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:17434800-17448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:17438600-17444800	Enhancers	Fetal Heart	heart
7	chr17:17438800-17445200	Enhancers	Liver	Liver
8	chr17:17438800-17450800	Enhancers	Fetal Muscle Leg	muscle
9	chr17:17439200-17446000	Enhancers	Fetal Muscle Trunk	muscle
10	chr17:17439800-17447000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:17439800-17448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:17439800-17448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:17439800-17448600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr17:17439800-17453200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr17:17440000-17448600	Weak transcription	HSMMtube	muscle
16	chr17:17440000-17453200	Weak transcription	Brain Substantia Nigra	brain
17	chr17:17440200-17448400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr17:17440200-17454800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:17440400-17450000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:17441400-17448400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:17441400-17448600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:17441600-17448600	Weak transcription	Ovary	ovary
23	chr17:17441600-17448600	Weak transcription	Right Atrium	heart
24	chr17:17442200-17448400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:17442600-17444800	Enhancers	Right Ventricle	heart
26	chr17:17442600-17445000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:17442600-17445200	Enhancers	Fetal Stomach	stomach
28	chr17:17442800-17448400	Weak transcription	Spleen	Spleen
29	chr17:17442800-17456400	Weak transcription	Small Intestine	intestine
30	chr17:17443000-17445000	Enhancers	Fetal Thymus	thymus
31	chr17:17443200-17444800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr17:17443400-17467000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr17:17443600-17444800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:17443800-17444800	Enhancers	Esophagus	oesophagus
35	chr17:17443800-17444800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr17:17443800-17446200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr17:17444000-17445200	Enhancers	Adipose Nuclei	Adipose
38	chr17:17444000-17454400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:17444000-17454400	Weak transcription	Placenta	Placenta
40	chr17:17444200-17448600	Weak transcription	Colonic Mucosa	Colon
41	chr17:17444200-17451600	Weak transcription	Lung	lung
42	chr17:17444200-17454400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:17444200-17467400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:17444400-17445200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:17444400-17446000	Weak transcription	Pancreas	Pancrea
46	chr17:17444400-17448600	Weak transcription	Gastric	stomach
47	chr17:17444400-17449800	Weak transcription	HepG2	liver
48	chr17:17444400-17469200	Weak transcription	Fetal Brain Female	brain
49	chr17:17444600-17445800	Weak transcription	Fetal Intestine Small	intestine
50	chr17:17444600-17446200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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