Variant report

Variant	rs2444244
Chromosome Location	chr15:43824751-43824752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43823602..43825884-chr15:43826737..43829270,3	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs101094	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1060939	0.94[ASN][1000 genomes]
rs11856184	0.82[AMR][1000 genomes]
rs11858640	0.87[AMR][1000 genomes]
rs1814538	0.89[AMR][1000 genomes]
rs1869258	0.83[ASN][1000 genomes]
rs2245054	0.87[AMR][1000 genomes]
rs2245176	0.87[AMR][1000 genomes]
rs2245664	0.84[AMR][1000 genomes]
rs2245715	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2245780	0.87[AMR][1000 genomes]
rs2245790	0.87[AMR][1000 genomes]
rs2245908	0.84[AMR][1000 genomes]
rs2251538	0.89[AMR][1000 genomes]
rs2251844	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2253708	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2254321	0.83[AMR][1000 genomes]
rs2254325	0.83[AMR][1000 genomes]
rs2254927	0.90[ASN][1000 genomes]
rs2255042	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255051	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255383	0.87[AMR][1000 genomes]
rs2255410	0.94[ASN][1000 genomes]
rs2255440	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255663	0.95[ASN][1000 genomes]
rs2264049	0.89[AMR][1000 genomes]
rs2264239	0.87[AMR][1000 genomes]
rs2264248	0.86[AMR][1000 genomes]
rs2264876	0.87[AMR][1000 genomes]
rs2439831	0.87[AMR][1000 genomes]
rs2439832	0.84[AMR][1000 genomes]
rs2439834	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2439836	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2439839	0.81[ASN][1000 genomes]
rs2439841	0.83[AMR][1000 genomes]
rs2439843	0.88[ASN][1000 genomes]
rs2439848	0.87[AMR][1000 genomes]
rs2439850	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2444028	0.84[AMR][1000 genomes]
rs2444029	0.84[AMR][1000 genomes]
rs2444032	0.87[AMR][1000 genomes]
rs2444247	0.84[AMR][1000 genomes]
rs2444249	0.87[AMR][1000 genomes]
rs2444250	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2467736	0.89[AMR][1000 genomes]
rs2467739	0.86[AMR][1000 genomes]
rs2467740	0.87[AMR][1000 genomes]
rs2467743	0.87[AMR][1000 genomes]
rs2467746	0.86[AMR][1000 genomes]
rs2470130	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470131	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2584706	0.89[AMR][1000 genomes]
rs2584725	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2584726	0.84[AMR][1000 genomes]
rs28475234	0.81[AMR][1000 genomes]
rs28666488	0.84[AMR][1000 genomes]
rs2915788	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915792	0.84[AMR][1000 genomes]
rs2927072	0.82[AMR][1000 genomes]
rs2957637	0.82[AMR][1000 genomes]
rs3097773	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs471229	0.84[AMR][1000 genomes]
rs475486	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs480108	0.94[ASN][1000 genomes]
rs483724	0.86[AMR][1000 genomes]
rs486301	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs495175	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs496584	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs523156	0.92[ASN][1000 genomes]
rs524417	0.84[AMR][1000 genomes]
rs526083	0.84[AMR][1000 genomes]
rs527921	0.86[AMR][1000 genomes]
rs529611	0.84[ASN][1000 genomes]
rs537115	0.83[AMR][1000 genomes]
rs544122	0.81[AMR][1000 genomes]
rs550239	0.84[AMR][1000 genomes]
rs558656	0.83[AMR][1000 genomes]
rs561863	0.89[AMR][1000 genomes]
rs56397895	0.83[EUR][1000 genomes]
rs565007	0.84[AMR][1000 genomes]
rs570933	0.95[ASN][1000 genomes]
rs572837	0.95[ASN][1000 genomes]
rs57865312	0.81[AMR][1000 genomes]
rs689596	0.89[AMR][1000 genomes]
rs689616	0.89[AMR][1000 genomes]
rs689647	0.87[AMR][1000 genomes]
rs689754	0.84[AMR][1000 genomes]
rs689781	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs689797	0.95[ASN][1000 genomes]
rs689826	0.87[AMR][1000 genomes]
rs689835	0.83[AMR][1000 genomes]
rs689883	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs690002	0.81[AMR][1000 genomes]
rs690038	0.83[AMR][1000 genomes]
rs690263	0.84[AMR][1000 genomes]
rs690316	0.84[AMR][1000 genomes]
rs690436	0.87[AMR][1000 genomes]
rs694985	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8039671	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	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
7	nsv428304	chr15:43823158-44008580	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
10	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
11	nsv428633	chr15:43823160-44008580	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2444244	ADAL	cis	Nerve Tibial	GTEx
rs2444244	ADAL	cis	Thyroid	GTEx
rs2444244	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2444244	CKMT1A	cis	Skin Sun Exposed Lower leg	GTEx
rs2444244	ADAL	cis	Artery Aorta	GTEx
rs2444244	ADAL	cis	Esophagus Muscularis	GTEx
rs2444244	ADAL	cis	lung	GTEx
rs2444244	ADAL	cis	Adipose Subcutaneous	GTEx
rs2444244	ADAL	cis	Artery Tibial	GTEx
rs2444244	CATSPER2	cis	Esophagus Mucosa	GTEx
rs2444244	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs2444244	ELL3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

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	chr15:43810800-43826000	Weak transcription	Esophagus	oesophagus
4	chr15:43811000-43828600	Weak transcription	Pancreas	Pancrea
5	chr15:43811200-43826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:43811400-43829200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:43812000-43844400	Weak transcription	Fetal Brain Male	brain
8	chr15:43814400-43826200	Weak transcription	Lung	lung
9	chr15:43814600-43826000	Weak transcription	Placenta	Placenta
10	chr15:43815000-43826000	Weak transcription	Gastric	stomach
11	chr15:43815400-43833600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:43815800-43839400	Weak transcription	Stomach Mucosa	stomach
13	chr15:43816000-43826600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:43816400-43826800	Weak transcription	Ovary	ovary
15	chr15:43816600-43826000	Weak transcription	Primary T cells from cord blood	blood
16	chr15:43816600-43826400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:43817800-43826000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:43817800-43826000	Weak transcription	Adipose Nuclei	Adipose
19	chr15:43817800-43826600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:43817800-43826800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:43817800-43827000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr15:43818000-43835400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:43818000-43852600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:43818200-43826000	Weak transcription	Left Ventricle	heart
25	chr15:43818200-43851600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:43818400-43826000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr15:43818800-43826400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:43819000-43827200	Weak transcription	Aorta	Aorta
29	chr15:43819600-43827800	Weak transcription	NH-A	brain
30	chr15:43820800-43826800	Weak transcription	Colonic Mucosa	Colon
31	chr15:43822400-43825600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:43822400-43826000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:43822400-43827200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:43822600-43826000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:43822600-43826000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:43822600-43826200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:43822600-43827000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:43822800-43842800	Weak transcription	HSMM	muscle
39	chr15:43823000-43830200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:43823200-43825200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:43823200-43825800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:43823200-43826000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:43823200-43826200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:43823200-43826200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:43823200-43826400	Weak transcription	NHEK	skin
46	chr15:43823200-43826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:43823200-43826600	Weak transcription	Osteobl	bone
48	chr15:43823200-43830000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:43823200-43835600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:43823400-43826000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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