Variant report

Variant	rs7216223
Chromosome Location	chr17:17437297-17437298
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	chr17:17431321..17433424-chr17:17436533..17438889,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10401038	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651280	0.92[EUR][1000 genomes]
rs11654553	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11654777	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11658311	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13342397	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16961845	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583584	0.80[EUR][1000 genomes]
rs28636952	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28652618	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35301480	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35838363	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57304518	1.00[ASN][1000 genomes]
rs58167365	1.00[ASN][1000 genomes]
rs58494746	1.00[ASN][1000 genomes]
rs58729290	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[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];0.86[EUR][1000 genomes]
rs70959697	1.00[ASN][1000 genomes]
rs70963009	1.00[ASN][1000 genomes]
rs70963012	1.00[ASN][1000 genomes]
rs7210978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214988	0.80[EUR][1000 genomes]
rs7215055	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222358	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7224725	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7225421	1.00[AMR][1000 genomes];0.86[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]
rs73978969	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070432	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8074742	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8081961	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889584	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889795	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9890062	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9897362	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9903468	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9903503	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9904004	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9905032	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9905191	0.86[EUR][1000 genomes]
rs9910747	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944423	1.00[AMR][1000 genomes];0.80[EUR][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	nsv574526	chr17:17422608-17444369	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17413200-17437400	Weak transcription	Aorta	Aorta
2	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
3	chr17:17419600-17447000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:17421000-17439200	Weak transcription	HSMM	muscle
5	chr17:17424600-17460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:17427200-17440600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:17430200-17438800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:17430200-17439200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:17431800-17439400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:17432000-17439600	Weak transcription	Fetal Intestine Small	intestine
11	chr17:17432600-17441200	Weak transcription	Ovary	ovary
12	chr17:17432800-17439000	Weak transcription	Psoas Muscle	Psoas
13	chr17:17432800-17442600	Weak transcription	Spleen	Spleen
14	chr17:17433000-17439200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:17433000-17439200	Weak transcription	Gastric	stomach
16	chr17:17433200-17438400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr17:17433200-17438600	Weak transcription	Fetal Heart	heart
18	chr17:17433200-17439200	Weak transcription	Pancreas	Pancrea
19	chr17:17433200-17439600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr17:17434800-17448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:17435000-17440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:17436000-17438800	Weak transcription	Fetal Muscle Leg	muscle
23	chr17:17436400-17437600	Enhancers	Liver	Liver
24	chr17:17436400-17437800	Enhancers	Stomach Mucosa	stomach
25	chr17:17436600-17441000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:17436600-17441600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:17436800-17438000	Enhancers	HepG2	liver
28	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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