Variant report

Variant	rs60545315
Chromosome Location	chr9:18332224-18332225
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1411154	1.00[AMR][1000 genomes]
rs16936485	1.00[AMR][1000 genomes]
rs56341301	1.00[AMR][1000 genomes]
rs56379357	1.00[AMR][1000 genomes]
rs56815370	1.00[AMR][1000 genomes]
rs56849057	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56974885	1.00[AMR][1000 genomes]
rs57273644	1.00[AMR][1000 genomes]
rs58650494	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58901600	1.00[AMR][1000 genomes]
rs58983810	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59109291	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59796968	1.00[AMR][1000 genomes]
rs60035542	1.00[AMR][1000 genomes]
rs60215638	1.00[AMR][1000 genomes]
rs60701392	1.00[AMR][1000 genomes]
rs73643211	1.00[AMR][1000 genomes]
rs73643214	1.00[AMR][1000 genomes]
rs73643215	1.00[AMR][1000 genomes]
rs73643217	1.00[AMR][1000 genomes]
rs73643227	1.00[AMR][1000 genomes]
rs73643240	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73643243	0.91[AFR][1000 genomes]
rs73643251	1.00[AMR][1000 genomes]
rs7868061	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv892684	chr9:18261485-18401585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv430001	chr9:18301116-18346392	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv892687	chr9:18303691-18430297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv525743	chr9:18312578-18359014	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18325600-18334200	Weak transcription	Fetal Heart	heart
2	chr9:18326000-18333200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:18327800-18333400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:18327800-18333800	Weak transcription	NHDF-Ad	bronchial
5	chr9:18330200-18332600	Enhancers	Colon Smooth Muscle	Colon
6	chr9:18330200-18332600	Enhancers	Fetal Lung	lung
7	chr9:18330400-18332600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr9:18330600-18332400	Enhancers	Fetal Kidney	kidney
9	chr9:18331000-18332600	Enhancers	Ovary	ovary
10	chr9:18331000-18333000	Enhancers	Hela-S3	cervix
11	chr9:18331000-18334400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:18331400-18332600	Enhancers	NH-A	brain
13	chr9:18331400-18332800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:18331400-18333000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr9:18331600-18332400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:18331600-18332800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:18331600-18333800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:18331600-18336000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:18331800-18333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:18331800-18333800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:18331800-18337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:18332000-18332600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:18332000-18334000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:18332000-18334400	Enhancers	HUVEC	blood vessel
25	chr9:18332200-18333800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:18332200-18337800	Weak transcription	Osteobl	bone

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