Variant report

Variant	rs10819780
Chromosome Location	chr9:98826369-98826370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98822681..98824476-chr9:98825586..98827527,2	K562	blood:
2	chr9:98820092..98822535-chr9:98824625..98827405,2	MCF-7	breast:
3	chr9:98825741..98828802-chr9:98832378..98835494,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10739797	0.91[JPT][hapmap]
rs10989088	0.86[CEU][hapmap];0.83[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1547203	0.96[ASN][1000 genomes]
rs1547204	0.96[ASN][1000 genomes]
rs4592147	0.96[ASN][1000 genomes]
rs7029255	0.94[ASN][1000 genomes]
rs7048174	0.93[ASN][1000 genomes]
rs734631	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs927968	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893599	chr9:98542410-98991254	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10819780	ERCC6L2	cis	Artery Tibial	GTEx
rs10819780	ERCC6L2	cis	Nerve Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98810200-98827200	Weak transcription	Aorta	Aorta
2	chr9:98812200-98829600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr9:98812800-98829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:98819800-98832000	Weak transcription	Gastric	stomach
5	chr9:98823200-98827600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:98824200-98826800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:98824200-98826800	Weak transcription	Pancreas	Pancrea
8	chr9:98824200-98827000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:98824200-98827200	Weak transcription	Adipose Nuclei	Adipose
10	chr9:98824200-98828400	Weak transcription	Right Atrium	heart
11	chr9:98824200-98829000	Weak transcription	HSMMtube	muscle
12	chr9:98824200-98829400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:98824200-98829400	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:98824200-98829400	Weak transcription	Lung	lung
15	chr9:98824200-98829800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:98824200-98833600	Weak transcription	Brain Anterior Caudate	brain
17	chr9:98824200-98843000	Weak transcription	Esophagus	oesophagus
18	chr9:98824400-98829600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:98824400-98830800	Weak transcription	Stomach Mucosa	stomach
20	chr9:98824400-98831400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:98824600-98826800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:98824600-98826800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:98824600-98829000	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:98824800-98829000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:98824800-98829000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:98824800-98829000	Weak transcription	NHDF-Ad	bronchial
27	chr9:98824800-98829400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:98824800-98829400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:98824800-98829400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:98824800-98833800	Weak transcription	Fetal Intestine Small	intestine
31	chr9:98824800-98835200	Weak transcription	Fetal Intestine Large	intestine
32	chr9:98824800-98835600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:98825000-98829000	Weak transcription	Ovary	ovary
34	chr9:98825200-98826600	Weak transcription	Spleen	Spleen
35	chr9:98825200-98829200	Weak transcription	Fetal Lung	lung
36	chr9:98825800-98827200	Weak transcription	Fetal Stomach	stomach

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