Variant report

Variant	rs13187986
Chromosome Location	chr5:1949468-1949469
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1851660..1854180-chr5:1947393..1949890,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13174844	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13183501	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34170076	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34486860	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59787185	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67250303	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv508344	chr5:1905222-1976860	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv881562	chr5:1907974-1976187	Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv880964	chr5:1912921-1953161	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3389807	chr5:1949052-1953850	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1932000-1950800	Weak transcription	Gastric	stomach
2	chr5:1935600-1950800	Weak transcription	Pancreas	Pancrea
3	chr5:1939000-1965600	Weak transcription	Brain Angular Gyrus	brain
4	chr5:1942600-1953800	Weak transcription	Ovary	ovary
5	chr5:1946800-1951800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:1947000-1951600	Enhancers	Fetal Heart	heart
7	chr5:1947200-1952200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:1948400-1950000	Enhancers	Right Ventricle	heart
9	chr5:1948400-1950600	Bivalent Enhancer	Fetal Stomach	stomach
10	chr5:1948600-1949600	Enhancers	Right Atrium	heart
11	chr5:1948600-1950200	Active TSS	Stomach Smooth Muscle	stomach
12	chr5:1949000-1949600	Flanking Active TSS	Esophagus	oesophagus
13	chr5:1949000-1949600	Flanking Active TSS	NHEK	skin
14	chr5:1949000-1949800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:1949000-1949800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:1949000-1949800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:1949000-1949800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:1949000-1949800	Flanking Active TSS	HMEC	breast
19	chr5:1949000-1950600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr5:1949200-1949600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:1949200-1949600	Flanking Active TSS	Left Ventricle	heart
22	chr5:1949200-1949800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:1949200-1950800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:1949400-1950200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:1949400-1950600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr5:1949400-1951400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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