Variant report

Variant	rs197927
Chromosome Location	chr17:44972275-44972276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs123028	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12451290	1.00[ASN][1000 genomes]
rs16941177	1.00[ASN][1000 genomes]
rs16941180	1.00[ASN][1000 genomes]
rs16941186	1.00[ASN][1000 genomes]
rs16941211	1.00[ASN][1000 genomes]
rs187883	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs197909	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs197928	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197941	0.96[EUR][1000 genomes]
rs197943	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277614	1.00[ASN][1000 genomes]
rs34072914	0.90[ASN][1000 genomes]
rs62071992	0.90[ASN][1000 genomes]
rs7210762	1.00[ASN][1000 genomes]
rs73988203	1.00[ASN][1000 genomes]
rs73988204	1.00[ASN][1000 genomes]
rs73988205	1.00[ASN][1000 genomes]
rs73988207	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr17:44969200-44972400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:44970800-44973200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr17:44971200-44973000	Enhancers	Pancreas	Pancrea
4	chr17:44971400-44972400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr17:44971400-44972400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr17:44971400-44972600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr17:44971400-44972800	Flanking Bivalent TSS/Enh	HepG2	liver
8	chr17:44971400-44973000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:44971400-44973000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr17:44971600-44972400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:44971600-44972600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:44971600-44972600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:44971600-44972600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:44971600-44972800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr17:44971800-44972600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:44971800-44972800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr17:44971800-44972800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:44971800-44972800	Enhancers	Placenta	Placenta
19	chr17:44971800-44973000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr17:44971800-44973000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr17:44971800-44973200	Enhancers	Fetal Lung	lung
22	chr17:44971800-44973200	Enhancers	Spleen	Spleen
23	chr17:44972000-44972600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:44972000-44972600	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr17:44972000-44973000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr17:44972200-44972400	Bivalent Enhancer	HMEC	breast
27	chr17:44972200-44972600	Bivalent Enhancer	Fetal Stomach	stomach
28	chr17:44972200-44972600	Enhancers	Right Ventricle	heart

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