Variant report

Variant	rs4912196
Chromosome Location	chr1:58967416-58967417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:58963913..58966906-chr1:58967410..58971434,3	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10218842	0.92[EUR][1000 genomes]
rs10489816	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11207256	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11207257	0.86[EUR][1000 genomes]
rs11799408	1.00[CEU][hapmap]
rs11799415	0.92[EUR][1000 genomes]
rs11799786	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11800241	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11801938	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs11802520	1.00[CEU][hapmap]
rs11803703	1.00[EUR][1000 genomes]
rs11805031	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11805701	0.83[EUR][1000 genomes]
rs11805835	0.83[EUR][1000 genomes]
rs11807046	0.92[EUR][1000 genomes]
rs11807197	0.83[EUR][1000 genomes]
rs11808437	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11808438	0.81[EUR][1000 genomes]
rs11808738	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11809508	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs12024500	0.86[EUR][1000 genomes]
rs1503646	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1503647	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1503648	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1627332	1.00[CEU][hapmap]
rs17117574	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17117627	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17117643	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs17117647	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17117678	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17447078	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17498811	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17506467	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1775001	1.00[CEU][hapmap]
rs179798	0.86[CEU][hapmap]
rs1847350	0.89[EUR][1000 genomes]
rs1847351	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1891435	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2271005	0.83[EUR][1000 genomes]
rs2406783	0.86[EUR][1000 genomes]
rs338234	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs41296155	0.89[EUR][1000 genomes]
rs41311174	0.80[AMR][1000 genomes]
rs488606	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4912340	0.83[EUR][1000 genomes]
rs4912341	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4912342	0.92[EUR][1000 genomes]
rs4912343	0.92[EUR][1000 genomes]
rs4912345	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4912346	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs4912347	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs492988	1.00[CEU][hapmap]
rs518070	1.00[CEU][hapmap]
rs530095	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs532134	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs542727	1.00[CEU][hapmap]
rs546271	1.00[CEU][hapmap]
rs55712302	0.92[EUR][1000 genomes]
rs55721304	0.89[EUR][1000 genomes]
rs56054934	0.99[EUR][1000 genomes]
rs564252	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs565008	0.80[EUR][1000 genomes]
rs565954	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs593279	0.86[EUR][1000 genomes]
rs61629658	0.83[EUR][1000 genomes]
rs61779289	0.80[AMR][1000 genomes]
rs61781782	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61781784	1.00[EUR][1000 genomes]
rs61781785	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61781787	1.00[EUR][1000 genomes]
rs61781789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61781790	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61781792	0.92[EUR][1000 genomes]
rs61781813	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61781815	0.83[EUR][1000 genomes]
rs61781816	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61781818	0.92[EUR][1000 genomes]
rs61781819	0.88[EUR][1000 genomes]
rs61781821	0.81[EUR][1000 genomes]
rs61781822	0.81[EUR][1000 genomes]
rs61781823	0.81[EUR][1000 genomes]
rs61781824	0.81[EUR][1000 genomes]
rs621754	1.00[CEU][hapmap]
rs627633	1.00[CEU][hapmap]
rs628623	1.00[CEU][hapmap]
rs635775	1.00[CEU][hapmap]
rs644928	0.86[EUR][1000 genomes]
rs654299	1.00[CEU][hapmap]
rs6587817	0.99[EUR][1000 genomes]
rs6587829	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs6658743	0.99[EUR][1000 genomes]
rs6662028	1.00[EUR][1000 genomes]
rs6662905	0.90[EUR][1000 genomes]
rs6663128	0.86[EUR][1000 genomes]
rs6665320	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs6682499	0.89[EUR][1000 genomes]
rs6682661	0.89[EUR][1000 genomes]
rs6682720	0.89[EUR][1000 genomes]
rs6684437	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs6684553	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6686976	0.83[EUR][1000 genomes]
rs6694699	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698355	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs671830	0.80[EUR][1000 genomes]
rs672859	0.80[EUR][1000 genomes]
rs673276	0.80[EUR][1000 genomes]
rs725907	0.81[EUR][1000 genomes]
rs7354819	0.92[EUR][1000 genomes]
rs7355030	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7511732	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7513876	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7514159	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7535313	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7536984	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7537470	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7547348	0.86[EUR][1000 genomes]
rs7548097	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9583	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv829948	chr1:58803681-58971380	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4912196	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58918400-58974000	Weak transcription	Spleen	Spleen
2	chr1:58931000-58977000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:58931200-58969400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:58931600-58974000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:58932600-58974200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:58932600-58977000	Weak transcription	HSMMtube	muscle
8	chr1:58932800-58968000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:58933800-58984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:58934600-58968000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:58934600-58974000	Weak transcription	Right Ventricle	heart
12	chr1:58934800-58969200	Weak transcription	Liver	Liver
13	chr1:58934800-58976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:58934800-58994000	Weak transcription	HSMM	muscle
15	chr1:58935000-58974000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:58942000-58969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:58942000-58974200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:58942200-58974200	Weak transcription	Fetal Thymus	thymus
19	chr1:58944400-58967800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:58944600-58976000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:58945800-58974200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:58946200-58974000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:58946200-58977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:58946200-58979600	Weak transcription	GM12878-XiMat	blood
25	chr1:58946400-58973800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:58946400-58993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:58946600-58977000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:58947600-58977000	Weak transcription	Brain Angular Gyrus	brain
29	chr1:58948400-58977000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:58949600-58969400	Weak transcription	Dnd41	blood
31	chr1:58949800-58969200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:58950200-58976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:58952800-58977200	Weak transcription	Small Intestine	intestine
34	chr1:58953000-58974000	Weak transcription	Fetal Lung	lung
35	chr1:58953200-58986000	Weak transcription	Colonic Mucosa	Colon
36	chr1:58953600-58999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:58955000-58967600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:58955000-58969600	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:58955000-58974000	Weak transcription	Esophagus	oesophagus
40	chr1:58955000-58974000	Weak transcription	Pancreas	Pancrea
41	chr1:58955000-58974000	Weak transcription	Thymus	Thymus
42	chr1:58955000-58976600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:58955000-58976800	Weak transcription	Fetal Kidney	kidney
44	chr1:58955000-58986400	Weak transcription	Gastric	stomach
45	chr1:58955000-58988200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:58955200-58974000	Weak transcription	Aorta	Aorta
47	chr1:58959200-58968800	Weak transcription	Fetal Intestine Small	intestine
48	chr1:58960800-58976600	Weak transcription	Brain Anterior Caudate	brain
49	chr1:58961600-58974200	Weak transcription	Fetal Stomach	stomach
50	chr1:58962200-58969200	Weak transcription	Lung	lung

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