Variant report

Variant	rs2188042
Chromosome Location	chr9:118159740-118159741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs13284742	1.00[AFR][1000 genomes]
rs13286646	1.00[AFR][1000 genomes]
rs13287390	1.00[AFR][1000 genomes]
rs13290701	1.00[AFR][1000 genomes]
rs13293715	1.00[AFR][1000 genomes]
rs13298466	1.00[AFR][1000 genomes]
rs13300423	1.00[AFR][1000 genomes]
rs13301972	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34302658	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34313216	1.00[AFR][1000 genomes]
rs34321307	1.00[AFR][1000 genomes]
rs34466382	1.00[AFR][1000 genomes]
rs34471912	1.00[AFR][1000 genomes]
rs34568491	1.00[AFR][1000 genomes]
rs34581742	1.00[AFR][1000 genomes]
rs34705596	1.00[AFR][1000 genomes]
rs34728021	1.00[AFR][1000 genomes]
rs34748014	1.00[AFR][1000 genomes]
rs34816653	1.00[AFR][1000 genomes]
rs34900397	1.00[AFR][1000 genomes]
rs34928792	1.00[AFR][1000 genomes]
rs34938648	1.00[AFR][1000 genomes]
rs35132145	1.00[AFR][1000 genomes]
rs35203429	1.00[AFR][1000 genomes]
rs35259015	1.00[AFR][1000 genomes]
rs35365687	1.00[AFR][1000 genomes]
rs35433621	1.00[AFR][1000 genomes]
rs35468444	1.00[AFR][1000 genomes]
rs35483504	1.00[AFR][1000 genomes]
rs35643606	1.00[AFR][1000 genomes]
rs35770937	1.00[AFR][1000 genomes]
rs35976675	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36007561	1.00[AFR][1000 genomes]
rs36078239	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4344149	1.00[AFR][1000 genomes]
rs56199075	1.00[AFR][1000 genomes]
rs57096760	1.00[AFR][1000 genomes]
rs60262778	1.00[AFR][1000 genomes]
rs71505542	1.00[AFR][1000 genomes]
rs71505544	1.00[AFR][1000 genomes]
rs71505545	0.82[EUR][1000 genomes]
rs71505546	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71505548	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1042957	chr9:118153824-118313540	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2761245	chr9:118157164-118171298	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	nsv519995	chr9:118157729-118163797	Enhancers Weak transcription	n/a	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	chr9:118154600-118161800	Weak transcription	Fetal Kidney	kidney
2	chr9:118154800-118159800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:118157400-118162200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:118157600-118160600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:118158000-118160600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr9:118158800-118162600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:118158800-118163200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:118159000-118159800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:118159000-118160400	Weak transcription	Fetal Lung	lung
10	chr9:118159000-118160400	Weak transcription	NHDF-Ad	bronchial
11	chr9:118159000-118160600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr9:118159000-118161400	Weak transcription	Right Atrium	heart
13	chr9:118159000-118161600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:118159000-118170600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:118159200-118161200	Weak transcription	Osteobl	bone
16	chr9:118159200-118161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:118159200-118163000	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:118159200-118163200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:118159200-118163200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr9:118159200-118163200	Weak transcription	NH-A	brain
21	chr9:118159200-118163800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:118159400-118160400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:118159400-118160600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr9:118159600-118160000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:118159600-118160400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr9:118159600-118160600	Enhancers	HUES64 Cell Line	embryonic stem cell

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