Variant report

Variant	rs2470130
Chromosome Location	chr15:43829615-43829616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	15:43807815-43812531..15:43825784-43834250	K562	blood:
2	15:43792489-43802874..15:43825784-43834250	K562	blood:
3	chr15:43819879..43821980-chr15:43828096..43830428,2	MCF-7	breast:
4	15:43825784-43834250..15:44067689-44069261	Hela-S3	cervix:
5	15:43825784-43834250..15:44034348-44042259	Hela-S3	cervix:
6	15:43782117-43785993..15:43825784-43834250	Hela-S3	cervix:
7	chr15:43828054..43831995-chr15:43833960..43836416,4	K562	blood:

Variant related genes	Relation type
ENSG00000067369	Chromatin interaction
ENSG00000166963	Chromatin interaction
ENSG00000205771	Chromatin interaction
ENSG00000128886	Chromatin interaction
ENSG00000167004	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs101094	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10518820	0.85[EUR][1000 genomes]
rs1060939	0.99[ASN][1000 genomes]
rs11856184	0.86[AMR][1000 genomes]
rs11858640	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12323999	0.81[AMR][1000 genomes]
rs12324584	0.83[AMR][1000 genomes]
rs1814538	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1869258	0.85[ASN][1000 genomes]
rs2243434	0.81[AMR][1000 genomes]
rs2245054	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2245176	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2245664	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2245715	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2245780	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2245790	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2245908	0.87[AMR][1000 genomes]
rs2250743	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2251538	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2251844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2253268	0.80[ASN][1000 genomes]
rs2253708	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2254321	0.86[AMR][1000 genomes]
rs2254325	0.86[AMR][1000 genomes]
rs2254927	0.96[ASN][1000 genomes]
rs2255042	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255051	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255383	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2255410	0.99[ASN][1000 genomes]
rs2255440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255663	1.00[ASN][1000 genomes]
rs2264049	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2264239	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2264248	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2264876	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2412782	0.80[AMR][1000 genomes]
rs2439	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2439831	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2439832	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2439833	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2439834	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2439836	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2439839	0.82[ASN][1000 genomes]
rs2439841	0.86[AMR][1000 genomes]
rs2439843	0.93[ASN][1000 genomes]
rs2439848	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2439850	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2444028	0.87[AMR][1000 genomes]
rs2444029	0.87[AMR][1000 genomes]
rs2444032	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2444244	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2444247	0.87[AMR][1000 genomes]
rs2444249	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2444250	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2447193	0.81[AMR][1000 genomes]
rs2447196	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2447197	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2447198	0.86[EUR][1000 genomes]
rs2447208	0.82[AMR][1000 genomes]
rs2447211	0.81[AMR][1000 genomes]
rs2447212	0.81[AMR][1000 genomes]
rs2467736	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2467739	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2467740	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2467743	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2467746	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2470121	0.82[AMR][1000 genomes]
rs2470131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470134	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2584702	0.81[AMR][1000 genomes]
rs2584706	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2584725	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2584726	0.87[AMR][1000 genomes]
rs2601014	0.82[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	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28628574	0.85[EUR][1000 genomes]
rs28666488	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2915776	0.82[AMR][1000 genomes]
rs2915779	0.82[AMR][1000 genomes]
rs2915788	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2915792	0.87[AMR][1000 genomes]
rs2920780	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2924368	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2927072	0.86[AMR][1000 genomes]
rs2927075	0.82[AMR][1000 genomes]
rs2957637	0.86[AMR][1000 genomes]
rs3097773	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs471229	0.87[AMR][1000 genomes]
rs475486	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs480108	0.99[ASN][1000 genomes]
rs483724	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs486301	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs495175	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs496584	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523156	0.97[ASN][1000 genomes]
rs524417	0.87[AMR][1000 genomes]
rs526083	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs527921	0.89[AMR][1000 genomes]
rs529611	0.85[ASN][1000 genomes]
rs537115	0.86[AMR][1000 genomes]
rs544122	0.84[AMR][1000 genomes]
rs550239	0.87[AMR][1000 genomes]
rs558656	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs561863	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56397895	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs565007	0.87[AMR][1000 genomes]
rs570933	0.99[ASN][1000 genomes]
rs572837	0.99[ASN][1000 genomes]
rs57865312	0.84[AMR][1000 genomes]
rs689596	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs689616	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs689647	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs689754	0.87[AMR][1000 genomes]
rs689781	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs689797	1.00[ASN][1000 genomes]
rs689826	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs689835	0.86[AMR][1000 genomes]
rs689883	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs690002	0.84[AMR][1000 genomes]
rs690038	0.86[AMR][1000 genomes]
rs690263	0.87[AMR][1000 genomes]
rs690316	0.87[AMR][1000 genomes]
rs690436	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs690466	0.81[AMR][1000 genomes]
rs694985	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7173487	0.81[AMR][1000 genomes]
rs8039671	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
6	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
7	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
8	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
9	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
10	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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2470130	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs2470130	ADAL	cis	Thyroid	GTEx
rs2470130	ADAL	cis	Artery Aorta	GTEx
rs2470130	ADAL	cis	Artery Tibial	GTEx
rs2470130	ADAL	cis	Nerve Tibial	GTEx
rs2470130	ADAL	cis	Esophagus Muscularis	GTEx
rs2470130	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2470130	CATSPER2	cis	Esophagus Mucosa	GTEx
rs2470130	ADAL	cis	lung	GTEx
rs2470130	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs2470130	ADAL	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43812000-43844400	Weak transcription	Fetal Brain Male	brain
2	chr15:43815400-43833600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:43815800-43839400	Weak transcription	Stomach Mucosa	stomach
4	chr15:43818000-43835400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr15:43818000-43852600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:43818200-43851600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:43822800-43842800	Weak transcription	HSMM	muscle
8	chr15:43823000-43830200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:43823200-43830000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:43823200-43835600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:43823600-43837400	Weak transcription	Fetal Lung	lung
12	chr15:43823600-43840000	Weak transcription	Psoas Muscle	Psoas
13	chr15:43823800-43833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:43823800-43836400	Weak transcription	NHLF	lung
15	chr15:43823800-43852600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr15:43824000-43830000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:43824200-43833400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:43824200-43842800	Weak transcription	HSMMtube	muscle
19	chr15:43824200-43845000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:43824400-43830000	Weak transcription	NHDF-Ad	bronchial
21	chr15:43824800-43853000	Weak transcription	GM12878-XiMat	blood
22	chr15:43824800-43853200	Weak transcription	Hela-S3	cervix
23	chr15:43825200-43830000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:43826000-43832000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:43827200-43849800	Weak transcription	Colonic Mucosa	Colon
26	chr15:43827400-43830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:43827400-43831400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:43827400-43834200	Weak transcription	Fetal Brain Female	brain
29	chr15:43827400-43839800	Weak transcription	Colon Smooth Muscle	Colon
30	chr15:43827400-43841400	Weak transcription	NHEK	skin
31	chr15:43827400-43842400	Weak transcription	Osteobl	bone
32	chr15:43827400-43852600	Weak transcription	Left Ventricle	heart
33	chr15:43827400-43854000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:43827600-43829800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:43827600-43830800	Weak transcription	Fetal Intestine Small	intestine
36	chr15:43827600-43834200	Weak transcription	Dnd41	blood
37	chr15:43827600-43837000	Weak transcription	Gastric	stomach
38	chr15:43827600-43839200	Weak transcription	Primary T cells from cord blood	blood
39	chr15:43827600-43839200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:43827600-43840400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:43827600-43840400	Weak transcription	Fetal Stomach	stomach
42	chr15:43827600-43846800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:43827600-43848400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr15:43827600-43848600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:43827600-43849000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:43827600-43849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:43827600-43851200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:43827600-43851400	Weak transcription	Right Ventricle	heart
49	chr15:43827600-43851800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:43827600-43852800	Weak transcription	Lung	lung

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