Variant report

Variant	rs10026748
Chromosome Location	chr4:120384357-120384358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10004144	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10006525	0.87[AMR][1000 genomes]
rs10006706	0.86[AMR][1000 genomes]
rs10006793	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10008459	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10009450	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10017335	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10017389	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10018726	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10020027	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10026493	0.89[AMR][1000 genomes]
rs10026516	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10026736	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10026952	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10031483	0.86[AMR][1000 genomes]
rs10031665	0.86[AMR][1000 genomes]
rs10032151	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10032158	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10034623	0.86[AMR][1000 genomes]
rs10518328	0.86[AMR][1000 genomes]
rs11098524	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11098525	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11098526	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11098527	0.86[AMR][1000 genomes]
rs11098530	0.86[AMR][1000 genomes]
rs11729521	0.86[AMR][1000 genomes]
rs11734241	0.86[AMR][1000 genomes]
rs11934314	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11934328	0.85[AMR][1000 genomes]
rs11934397	0.85[AMR][1000 genomes]
rs11934940	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11935596	0.86[AMR][1000 genomes]
rs11940028	0.86[AMR][1000 genomes]
rs11943877	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12499324	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12502423	0.87[AMR][1000 genomes]
rs12502909	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12505878	0.87[AMR][1000 genomes]
rs12505953	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12507964	0.86[AMR][1000 genomes]
rs12508504	0.87[AMR][1000 genomes]
rs12510138	0.84[AMR][1000 genomes]
rs13107475	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13145352	0.87[AMR][1000 genomes]
rs1480931	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17005535	0.87[AMR][1000 genomes]
rs17006190	0.82[AMR][1000 genomes]
rs17046116	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17046118	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1809406	0.89[AMR][1000 genomes]
rs2127821	0.80[AMR][1000 genomes]
rs2306455	0.86[AMR][1000 genomes]
rs2389803	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2389809	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28374462	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28394590	0.89[AMR][1000 genomes]
rs28408407	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28441656	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28444327	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28461559	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28479042	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28499576	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28529639	0.89[AMR][1000 genomes]
rs28559989	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28567426	0.89[AMR][1000 genomes]
rs28571712	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28587142	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28587175	0.87[AMR][1000 genomes]
rs28626372	0.87[AMR][1000 genomes]
rs28632018	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28655325	0.82[AMR][1000 genomes]
rs28665282	0.89[AMR][1000 genomes]
rs28685688	0.83[AMR][1000 genomes]
rs28845498	0.86[AMR][1000 genomes]
rs2892848	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34004415	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34858317	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35063680	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35111011	0.81[AMR][1000 genomes]
rs3733519	0.86[AMR][1000 genomes]
rs3733520	0.86[AMR][1000 genomes]
rs3733523	0.86[AMR][1000 genomes]
rs3733524	0.83[AMR][1000 genomes]
rs4001190	0.91[AMR][1000 genomes]
rs4001191	0.90[AMR][1000 genomes]
rs4577559	0.86[AMR][1000 genomes]
rs56270433	0.86[AMR][1000 genomes]
rs56372521	0.82[AMR][1000 genomes]
rs66506550	0.86[AMR][1000 genomes]
rs6822679	0.86[AMR][1000 genomes]
rs6834796	0.86[AMR][1000 genomes]
rs6837828	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6838814	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6842762	0.86[AMR][1000 genomes]
rs6848389	0.86[AMR][1000 genomes]
rs6849171	0.86[AMR][1000 genomes]
rs6849561	0.86[AMR][1000 genomes]
rs71614438	0.86[AMR][1000 genomes]
rs71614443	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs71614444	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71614448	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71614449	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71629403	0.84[AMR][1000 genomes]
rs71629404	0.86[AMR][1000 genomes]
rs7436506	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7654529	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7654546	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7654587	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7656252	0.86[AMR][1000 genomes]
rs7659336	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7659501	0.86[AMR][1000 genomes]
rs7659551	0.86[AMR][1000 genomes]
rs7664458	0.84[AMR][1000 genomes]
rs7680704	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7681214	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7681544	0.86[AMR][1000 genomes]
rs7681978	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7687843	0.86[AMR][1000 genomes]
rs7688613	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9685784	0.81[AMR][1000 genomes]
rs9993199	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9994730	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9994810	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9998585	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv879844	chr4:120341296-120449810	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv879847	chr4:120371729-120450159	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv967792	chr4:120378096-120386467	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv966374	chr4:120383804-120385016	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10026748	RP11-33B1.1	cis	Whole Blood	GTEx
rs10026748	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs10026748	RP11-384K6.6	cis	Whole Blood	GTEx
rs10026748	RP11-548H18.2	cis	Esophagus Mucosa	GTEx
rs10026748	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs10026748	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs10026748	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL
rs10026748	RP11-33B1.1	cis	lung	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120392400	Weak transcription	Fetal Lung	lung
2	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:120376600-120397200	Weak transcription	Aorta	Aorta
4	chr4:120376600-120399000	Weak transcription	Stomach Mucosa	stomach
5	chr4:120376600-120401200	Weak transcription	Psoas Muscle	Psoas
6	chr4:120376600-120419200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:120377000-120388600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:120377000-120416000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:120377200-120388800	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:120377200-120392400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:120377200-120393200	Weak transcription	Primary B cells from cord blood	blood
12	chr4:120377200-120397400	Weak transcription	Lung	lung
13	chr4:120377200-120400000	Weak transcription	Esophagus	oesophagus
14	chr4:120377200-120400600	Weak transcription	A549	lung
15	chr4:120377200-120401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:120377200-120403400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:120377200-120415600	Weak transcription	Brain Substantia Nigra	brain
18	chr4:120377200-120416200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:120377200-120419600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:120377200-120433800	Weak transcription	Gastric	stomach
21	chr4:120377400-120385200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:120377400-120385200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr4:120377400-120385200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:120377400-120385200	Weak transcription	Fetal Kidney	kidney
25	chr4:120377400-120385200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:120377400-120385200	Weak transcription	Left Ventricle	heart
27	chr4:120377400-120386600	Weak transcription	Fetal Stomach	stomach
28	chr4:120377400-120386800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:120377400-120389400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:120377400-120390200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:120377400-120391400	Weak transcription	NH-A	brain
32	chr4:120377400-120391800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:120377400-120392200	Weak transcription	Fetal Intestine Large	intestine
34	chr4:120377400-120392400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:120377400-120393200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:120377400-120393400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:120377400-120395000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:120377400-120396400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:120377400-120397400	Weak transcription	Thymus	Thymus
40	chr4:120377400-120397400	Weak transcription	Hela-S3	cervix
41	chr4:120377400-120397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:120377400-120398400	Weak transcription	Fetal Intestine Small	intestine
43	chr4:120377400-120399800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:120377400-120400200	Weak transcription	Ovary	ovary
45	chr4:120377400-120400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:120377400-120400600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:120377400-120400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:120377400-120401000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:120377400-120403000	Weak transcription	Fetal Brain Female	brain
50	chr4:120377400-120415200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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