Variant report

Variant	rs62071992
Chromosome Location	chr17:44953205-44953206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000262633	Chromatin interaction
ENSG00000261886	Chromatin interaction
ENSG00000210709	Chromatin interaction
ENSG00000108433	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12451290	0.90[ASN][1000 genomes]
rs16941177	0.90[ASN][1000 genomes]
rs16941180	0.90[ASN][1000 genomes]
rs16941186	0.90[ASN][1000 genomes]
rs16941211	0.90[ASN][1000 genomes]
rs187883	0.81[ASN][1000 genomes]
rs197909	0.81[ASN][1000 genomes]
rs197927	0.90[ASN][1000 genomes]
rs197928	0.90[ASN][1000 genomes]
rs197930	0.90[ASN][1000 genomes]
rs197938	0.90[ASN][1000 genomes]
rs197943	0.81[ASN][1000 genomes]
rs2277614	0.90[ASN][1000 genomes]
rs34072914	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210762	0.90[ASN][1000 genomes]
rs73988203	0.90[ASN][1000 genomes]
rs73988204	0.90[ASN][1000 genomes]
rs73988205	0.90[ASN][1000 genomes]
rs73988207	0.90[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44936000-44956000	Weak transcription	Right Atrium	heart
2	chr17:44948800-44953600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:44949400-44953600	Weak transcription	Fetal Intestine Small	intestine
4	chr17:44950800-44957000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:44951600-44953800	Weak transcription	Liver	Liver
6	chr17:44951800-44953600	Weak transcription	Placenta	Placenta
7	chr17:44952200-44954800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr17:44952400-44956200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr17:44952400-44956200	Enhancers	Pancreas	Pancrea
10	chr17:44952400-44956800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:44952800-44954200	Enhancers	Duodenum Mucosa	Duodenum
12	chr17:44952800-44955200	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:44953000-44953400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:44953000-44953800	Weak transcription	Spleen	Spleen
15	chr17:44953000-44954800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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