Variant report

Variant	rs2601014
Chromosome Location	chr15:43756013-43756014
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	15:43750262-43763629..15:43792489-43802874	K562	blood:
2	15:43750262-43763629..15:43802874-43806906	K562	blood:
3	15:43750262-43763629..15:44034348-44042259	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000067369	Chromatin interaction
ENSG00000167004	Chromatin interaction
ENSG00000166963	Chromatin interaction
ENSG00000205771	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs101094	0.86[AMR][1000 genomes]
rs11858640	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12323999	0.86[AMR][1000 genomes]
rs12324584	0.87[AMR][1000 genomes]
rs12437725	0.87[EUR][1000 genomes]
rs1814538	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2242068	0.80[EUR][1000 genomes]
rs2243434	0.86[AMR][1000 genomes]
rs2245054	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2245176	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2245664	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2245715	0.84[AMR][1000 genomes]
rs2245780	0.89[AMR][1000 genomes]
rs2245790	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2245908	0.86[AMR][1000 genomes]
rs2250743	0.85[AMR][1000 genomes]
rs2251538	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2251844	0.82[AMR][1000 genomes]
rs2253708	0.87[AMR][1000 genomes]
rs2254321	0.84[AMR][1000 genomes]
rs2254325	0.84[AMR][1000 genomes]
rs2255042	0.81[AMR][1000 genomes]
rs2255383	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2255440	0.82[AMR][1000 genomes]
rs2256764	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2264049	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2264239	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2264248	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2264876	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2412778	0.81[AMR][1000 genomes]
rs2412782	0.84[AMR][1000 genomes]
rs2439831	0.89[AMR][1000 genomes]
rs2439832	0.82[AMR][1000 genomes]
rs2439834	0.81[AMR][1000 genomes]
rs2439836	0.90[AMR][1000 genomes]
rs2439841	0.90[AMR][1000 genomes]
rs2439848	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2439850	0.87[AMR][1000 genomes]
rs2444028	0.86[AMR][1000 genomes]
rs2444029	0.86[AMR][1000 genomes]
rs2444032	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2444247	0.86[AMR][1000 genomes]
rs2444249	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2444250	0.87[AMR][1000 genomes]
rs2467736	0.87[AMR][1000 genomes]
rs2467739	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2467740	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2467743	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2467746	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2470130	0.82[AMR][1000 genomes]
rs2470131	0.82[AMR][1000 genomes]
rs2584702	0.86[AMR][1000 genomes]
rs2584706	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2584725	0.84[AMR][1000 genomes]
rs2584726	0.86[AMR][1000 genomes]
rs28666488	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28758627	0.80[AMR][1000 genomes]
rs2915788	0.81[AMR][1000 genomes]
rs3213990	0.81[AMR][1000 genomes]
rs3809481	0.84[AMR][1000 genomes]
rs4075674	0.81[AMR][1000 genomes]
rs45585139	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs471229	0.89[AMR][1000 genomes]
rs483724	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs486301	0.81[AMR][1000 genomes]
rs495175	0.84[AMR][1000 genomes]
rs496584	0.85[AMR][1000 genomes]
rs524417	0.82[AMR][1000 genomes]
rs526083	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs527921	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537115	0.84[AMR][1000 genomes]
rs544122	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs550239	0.86[AMR][1000 genomes]
rs558656	0.84[AMR][1000 genomes]
rs561863	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs565007	0.86[AMR][1000 genomes]
rs6493085	0.81[AMR][1000 genomes]
rs6493088	0.81[AMR][1000 genomes]
rs689596	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs689616	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs689647	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs689754	0.85[AMR][1000 genomes]
rs689781	0.84[AMR][1000 genomes]
rs689826	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs689835	0.84[AMR][1000 genomes]
rs689883	0.85[AMR][1000 genomes]
rs690002	0.82[AMR][1000 genomes]
rs690038	0.84[AMR][1000 genomes]
rs690170	0.83[ASN][1000 genomes]
rs690263	0.86[AMR][1000 genomes]
rs690316	0.86[AMR][1000 genomes]
rs690436	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs694985	0.85[AMR][1000 genomes]
rs7173487	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039671	0.84[AMR][1000 genomes]
rs9920763	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2601014	ADAL	cis	lung	GTEx
rs2601014	ADAL	cis	Artery Tibial	GTEx
rs2601014	ADAL	cis	Nerve Tibial	GTEx
rs2601014	ADAL	cis	Thyroid	GTEx
rs2601014	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2601014	ADAL	cis	multi-tissue	Pritchard
rs2601014	ADAL	cis	Esophagus Muscularis	GTEx
rs2601014	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs2601014	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs2601014	ADAL	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43726400-43769600	Weak transcription	Fetal Heart	heart
2	chr15:43730600-43765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:43730600-43766800	Weak transcription	Small Intestine	intestine
4	chr15:43731200-43761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:43739600-43761600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:43741600-43774800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:43743000-43757000	Strong transcription	Fetal Stomach	stomach
10	chr15:43743600-43763400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr15:43743800-43766800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:43743800-43770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:43743800-43773400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:43744000-43760800	Strong transcription	Fetal Intestine Small	intestine
15	chr15:43744000-43762600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:43744000-43770600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:43744000-43770600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:43744000-43773400	Strong transcription	Fetal Muscle Leg	muscle
19	chr15:43744000-43773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:43744200-43760400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:43746600-43773000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr15:43747600-43756400	Strong transcription	Fetal Intestine Large	intestine
26	chr15:43747800-43757800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:43748000-43757000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr15:43748000-43763400	Strong transcription	Dnd41	blood
29	chr15:43748800-43764800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:43749000-43760200	Weak transcription	Colonic Mucosa	Colon
31	chr15:43749000-43766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:43749200-43757200	Weak transcription	HMEC	breast
33	chr15:43749200-43759400	Weak transcription	Psoas Muscle	Psoas
34	chr15:43749200-43759400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:43749200-43765000	Weak transcription	Esophagus	oesophagus
36	chr15:43749200-43765000	Weak transcription	Gastric	stomach
37	chr15:43749200-43767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:43749200-43769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:43749200-43784600	Weak transcription	Stomach Mucosa	stomach
40	chr15:43749400-43756200	Weak transcription	Hela-S3	cervix
41	chr15:43749400-43757000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr15:43749400-43757200	Weak transcription	NHDF-Ad	bronchial
43	chr15:43749400-43757200	Weak transcription	NHEK	skin
44	chr15:43749400-43757400	Weak transcription	Fetal Kidney	kidney
45	chr15:43749400-43758200	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:43749400-43758800	Weak transcription	Brain Angular Gyrus	brain
47	chr15:43749400-43762600	Weak transcription	Brain Substantia Nigra	brain
48	chr15:43749400-43762800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:43749400-43764200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr15:43749400-43766600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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