Variant report

Variant	rs690170
Chromosome Location	chr15:43810422-43810423
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	15:43807815-43812531..15:44001645-44015047	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000242866	Chromatin interaction
ENSG00000238494	Chromatin interaction
ENSG00000166763	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2245715	0.81[AMR][1000 genomes]
rs2256764	0.83[ASN][1000 genomes]
rs2470134	0.85[ASN][1000 genomes]
rs2601014	0.83[ASN][1000 genomes]
rs486301	0.81[AMR][1000 genomes]
rs496584	0.82[AMR][1000 genomes]
rs527921	0.83[ASN][1000 genomes]
rs544122	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs689883	0.82[AMR][1000 genomes]
rs694985	0.82[AMR][1000 genomes]
rs7173487	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv515877	chr15:43802024-43818052	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv518707	chr15:43802024-43826557	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv832988	chr15:43804641-43976862	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs690170	ADAL	cis	Adipose Subcutaneous	GTEx
rs690170	ADAL	cis	Esophagus Muscularis	GTEx
rs690170	ADAL	cis	multi-tissue	Pritchard
rs690170	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs690170	ADAL	cis	Thyroid	GTEx
rs690170	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs690170	ADAL	cis	lung	GTEx
rs690170	ADAL	cis	Artery Aorta	GTEx
rs690170	ADAL	cis	Artery Tibial	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43808000-43811600	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr15:43808000-43812000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:43808200-43811400	Enhancers	Fetal Heart	heart
4	chr15:43808200-43811400	Flanking Active TSS	Fetal Muscle Leg	muscle
5	chr15:43808400-43812000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:43808800-43811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:43809000-43811200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr15:43809000-43811800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr15:43809000-43811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:43809200-43811000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr15:43809200-43811000	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr15:43809200-43811000	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr15:43809200-43811200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr15:43809200-43811400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr15:43809400-43810600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:43809400-43810800	Flanking Active TSS	Fetal Thymus	thymus
17	chr15:43809400-43811000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:43809400-43811000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:43809400-43811000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:43809400-43811000	Enhancers	Lung	lung
21	chr15:43809400-43811200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr15:43809400-43811200	Active TSS	Colon Smooth Muscle	Colon
23	chr15:43809400-43811400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:43809600-43810800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr15:43809600-43810800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:43809600-43810800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr15:43809600-43810800	Active TSS	Fetal Brain Male	brain
28	chr15:43809600-43810800	Active TSS	Fetal Kidney	kidney
29	chr15:43809600-43810800	Active TSS	Right Atrium	heart
30	chr15:43809600-43811000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:43809600-43811000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr15:43809600-43811000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr15:43809600-43811000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr15:43809600-43811000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:43809600-43811000	Active TSS	Brain Hippocampus Middle	brain
36	chr15:43809600-43811000	Active TSS	Ovary	ovary
37	chr15:43809600-43811000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr15:43809600-43811000	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr15:43809600-43811000	Active TSS	Rectal Smooth Muscle	rectum
40	chr15:43809600-43811000	Active TSS	HSMM	muscle
41	chr15:43809600-43811200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:43809600-43811200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:43809600-43811200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:43809600-43811200	Active TSS	Aorta	Aorta
45	chr15:43809600-43811200	Active TSS	Brain Anterior Caudate	brain
46	chr15:43809600-43811200	Active TSS	Brain Cingulate Gyrus	brain
47	chr15:43809600-43811200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr15:43809600-43811200	Active TSS	NHLF	lung
49	chr15:43809600-43811400	Active TSS	NHDF-Ad	bronchial
50	chr15:43809600-43811600	Active TSS	Brain Angular Gyrus	brain

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