Variant report

Variant	rs689883
Chromosome Location	chr15:43812596-43812597
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	chr15:43807917..43810717-chr15:43812007..43814882,2	K562	blood:

Variant related genes	Relation type
ENSG00000166963	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs101094	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10518820	0.85[EUR][1000 genomes]
rs1060939	0.99[ASN][1000 genomes]
rs11856184	0.85[AMR][1000 genomes]
rs11858640	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12323999	0.84[AMR][1000 genomes]
rs12324584	0.86[AMR][1000 genomes]
rs1814538	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1869258	0.86[ASN][1000 genomes]
rs2243434	0.84[AMR][1000 genomes]
rs2245054	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2245176	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2245664	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2245715	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2245780	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2245790	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2245908	0.84[AMR][1000 genomes]
rs2250743	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2251538	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2251844	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2253268	0.82[ASN][1000 genomes]
rs2253708	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254321	0.83[AMR][1000 genomes]
rs2254325	0.83[AMR][1000 genomes]
rs2254927	0.93[ASN][1000 genomes]
rs2255042	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255051	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2255383	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2255410	0.97[ASN][1000 genomes]
rs2255440	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255663	0.97[ASN][1000 genomes]
rs2256764	0.82[AMR][1000 genomes]
rs2264049	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2264239	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2264248	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2264876	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2412782	0.83[AMR][1000 genomes]
rs2439	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2439831	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2439832	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2439833	0.84[EUR][1000 genomes]
rs2439834	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2439836	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2439841	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2439843	0.90[ASN][1000 genomes]
rs2439848	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2439850	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2444028	0.84[AMR][1000 genomes]
rs2444029	0.84[AMR][1000 genomes]
rs2444032	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2444244	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2444247	0.84[AMR][1000 genomes]
rs2444249	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2444250	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2447193	0.81[AMR][1000 genomes]
rs2447196	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2447197	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2447198	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2447208	0.82[AMR][1000 genomes]
rs2447211	0.81[AMR][1000 genomes]
rs2447212	0.81[AMR][1000 genomes]
rs2467736	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2467739	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2467740	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2467743	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2467746	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2470121	0.82[AMR][1000 genomes]
rs2470130	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2470131	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2470134	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2584702	0.84[AMR][1000 genomes]
rs2584706	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2584725	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2584726	0.84[AMR][1000 genomes]
rs2601014	0.85[AMR][1000 genomes]
rs2614819	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2614822	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28475234	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28628574	0.85[EUR][1000 genomes]
rs28666488	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2915776	0.82[AMR][1000 genomes]
rs2915779	0.82[AMR][1000 genomes]
rs2915788	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915792	0.84[AMR][1000 genomes]
rs2920780	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2924368	0.82[EUR][1000 genomes]
rs2927072	0.85[AMR][1000 genomes]
rs2927075	0.82[AMR][1000 genomes]
rs2957637	0.85[AMR][1000 genomes]
rs3097773	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs471229	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs475486	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs480108	0.99[ASN][1000 genomes]
rs483724	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs486301	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs495175	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs496584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523156	0.99[ASN][1000 genomes]
rs524417	0.84[AMR][1000 genomes]
rs526083	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs527921	0.89[AMR][1000 genomes]
rs529611	0.88[ASN][1000 genomes]
rs537115	0.83[AMR][1000 genomes]
rs544122	0.84[AMR][1000 genomes]
rs548704	0.81[ASN][1000 genomes]
rs550239	0.84[AMR][1000 genomes]
rs558656	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs561863	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56397895	0.91[EUR][1000 genomes]
rs565007	0.84[AMR][1000 genomes]
rs570933	0.98[ASN][1000 genomes]
rs572837	0.98[ASN][1000 genomes]
rs57865312	0.84[AMR][1000 genomes]
rs689596	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs689616	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs689647	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs689754	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs689781	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs689797	0.97[ASN][1000 genomes]
rs689826	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs689835	0.83[AMR][1000 genomes]
rs690002	0.81[AMR][1000 genomes]
rs690038	0.83[AMR][1000 genomes]
rs690170	0.82[AMR][1000 genomes]
rs690263	0.84[AMR][1000 genomes]
rs690316	0.84[AMR][1000 genomes]
rs690436	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs694985	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7173487	0.84[AMR][1000 genomes]
rs8039671	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs999026	0.80[AFR][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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs689883	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs689883	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs689883	ADAL	cis	Thyroid	GTEx
rs689883	ADAL	cis	lung	GTEx
rs689883	CATSPER2	cis	Esophagus Mucosa	GTEx
rs689883	ADAL	cis	Nerve Tibial	GTEx
rs689883	ADAL	cis	Esophagus Muscularis	GTEx
rs689883	ADAL	cis	Adipose Subcutaneous	GTEx
rs689883	ADAL	cis	Artery Aorta	GTEx
rs689883	ADAL	cis	multi-tissue	Pritchard
rs689883	ADAL	cis	Artery Tibial	GTEx
rs689883	CKMT1A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43810400-43826200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:43810600-43826400	Weak transcription	Spleen	Spleen
3	chr15:43810800-43814200	Weak transcription	Gastric	stomach
4	chr15:43810800-43817600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:43810800-43824000	Weak transcription	Fetal Kidney	kidney
6	chr15:43810800-43826000	Weak transcription	Esophagus	oesophagus
7	chr15:43811000-43812600	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr15:43811000-43812600	Weak transcription	Left Ventricle	heart
9	chr15:43811000-43812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:43811000-43812800	Weak transcription	Ovary	ovary
11	chr15:43811000-43814200	Weak transcription	Lung	lung
12	chr15:43811000-43818600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:43811000-43828600	Weak transcription	Pancreas	Pancrea
14	chr15:43811200-43812600	Enhancers	Primary hematopoietic stem cells	blood
15	chr15:43811200-43812800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:43811200-43812800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr15:43811200-43813600	Weak transcription	Adipose Nuclei	Adipose
18	chr15:43811200-43813600	Weak transcription	Fetal Intestine Small	intestine
19	chr15:43811200-43813800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:43811200-43820600	Weak transcription	Colonic Mucosa	Colon
21	chr15:43811200-43823600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:43811200-43826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:43811400-43812600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:43811400-43812600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:43811400-43812600	Enhancers	K562	blood
26	chr15:43811400-43812800	Weak transcription	Primary T cells from cord blood	blood
27	chr15:43811400-43812800	Weak transcription	Fetal Lung	lung
28	chr15:43811400-43813000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:43811400-43829200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:43811600-43812600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:43811600-43812600	Weak transcription	NH-A	brain
32	chr15:43811600-43812800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:43811600-43812800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr15:43811600-43812800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:43811600-43813200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:43811600-43813200	Weak transcription	Right Ventricle	heart
37	chr15:43811800-43812600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:43811800-43812600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:43811800-43812600	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
40	chr15:43811800-43812600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:43811800-43812600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:43811800-43812600	Weak transcription	HSMM	muscle
43	chr15:43811800-43813000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:43811800-43813400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr15:43811800-43815800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr15:43812000-43812600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:43812000-43812600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:43812000-43812600	Weak transcription	Fetal Brain Female	brain
49	chr15:43812000-43812800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:43812000-43812800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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