Variant report

Variant	rs11593422
Chromosome Location	chr10:38113678-38113679
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	chr10:38110004..38112160-chr10:38113639..38116563,2	K562	blood:
2	chr10:38092192..38094710-chr10:38111605..38114587,2	K562	blood:

Extended variants
information (count: 287 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:283)

rs_ID	r²[population]
rs10508860	0.82[EUR][1000 genomes]
rs1148272	0.85[EUR][1000 genomes]
rs1148273	0.85[EUR][1000 genomes]
rs1148274	0.87[EUR][1000 genomes]
rs1148275	0.87[EUR][1000 genomes]
rs1148276	0.87[EUR][1000 genomes]
rs1148277	0.87[EUR][1000 genomes]
rs1148278	0.87[EUR][1000 genomes]
rs1148279	0.87[EUR][1000 genomes]
rs1148280	0.87[EUR][1000 genomes]
rs1148281	0.85[EUR][1000 genomes]
rs1148282	0.87[EUR][1000 genomes]
rs1148283	0.87[EUR][1000 genomes]
rs1148284	0.84[EUR][1000 genomes]
rs1148285	0.84[EUR][1000 genomes]
rs1148286	0.84[EUR][1000 genomes]
rs1148288	0.84[EUR][1000 genomes]
rs1148289	0.84[EUR][1000 genomes]
rs1148290	0.84[EUR][1000 genomes]
rs1148291	0.84[EUR][1000 genomes]
rs1148293	0.84[EUR][1000 genomes]
rs1148294	0.80[EUR][1000 genomes]
rs1148295	0.84[EUR][1000 genomes]
rs1148296	0.84[EUR][1000 genomes]
rs1148297	0.84[EUR][1000 genomes]
rs11591935	0.82[EUR][1000 genomes]
rs11592531	0.82[EUR][1000 genomes]
rs11594707	0.81[EUR][1000 genomes]
rs11595211	0.84[EUR][1000 genomes]
rs11595912	0.84[EUR][1000 genomes]
rs11595951	0.84[EUR][1000 genomes]
rs11596009	0.81[EUR][1000 genomes]
rs11596513	0.82[EUR][1000 genomes]
rs11597265	0.84[EUR][1000 genomes]
rs11597806	0.84[EUR][1000 genomes]
rs11599846	0.82[EUR][1000 genomes]
rs1208549	0.83[EUR][1000 genomes]
rs1208550	0.84[EUR][1000 genomes]
rs1208551	0.84[EUR][1000 genomes]
rs1208553	0.84[EUR][1000 genomes]
rs1208557	0.84[EUR][1000 genomes]
rs1208558	0.81[EUR][1000 genomes]
rs1208561	0.80[EUR][1000 genomes]
rs1208562	0.84[EUR][1000 genomes]
rs1208563	0.84[EUR][1000 genomes]
rs1208564	0.84[EUR][1000 genomes]
rs1208565	0.84[EUR][1000 genomes]
rs1208566	0.84[EUR][1000 genomes]
rs1208567	0.84[EUR][1000 genomes]
rs1208568	0.84[EUR][1000 genomes]
rs1208569	0.84[EUR][1000 genomes]
rs1208571	0.84[EUR][1000 genomes]
rs1208574	0.84[EUR][1000 genomes]
rs1208577	0.84[EUR][1000 genomes]
rs1208579	0.84[EUR][1000 genomes]
rs1208581	0.84[EUR][1000 genomes]
rs1208583	0.84[EUR][1000 genomes]
rs1208584	0.84[EUR][1000 genomes]
rs1208585	0.84[EUR][1000 genomes]
rs1208586	0.84[EUR][1000 genomes]
rs1208589	0.83[EUR][1000 genomes]
rs1208590	0.81[EUR][1000 genomes]
rs1208593	0.84[EUR][1000 genomes]
rs1208594	0.84[EUR][1000 genomes]
rs1208598	0.84[EUR][1000 genomes]
rs1208602	0.84[EUR][1000 genomes]
rs1208604	0.84[EUR][1000 genomes]
rs1208605	0.84[EUR][1000 genomes]
rs1208606	0.84[EUR][1000 genomes]
rs1208610	0.84[EUR][1000 genomes]
rs1208611	0.80[EUR][1000 genomes]
rs1208612	0.84[EUR][1000 genomes]
rs1208613	0.84[EUR][1000 genomes]
rs1208614	0.84[EUR][1000 genomes]
rs1208616	0.81[EUR][1000 genomes]
rs1208617	0.81[EUR][1000 genomes]
rs1208620	0.84[EUR][1000 genomes]
rs1208622	0.84[EUR][1000 genomes]
rs1208623	0.84[EUR][1000 genomes]
rs1208624	0.81[EUR][1000 genomes]
rs1208625	0.84[EUR][1000 genomes]
rs1208626	0.84[EUR][1000 genomes]
rs1208628	0.84[EUR][1000 genomes]
rs1208629	0.84[EUR][1000 genomes]
rs1208631	0.84[EUR][1000 genomes]
rs1208632	0.84[EUR][1000 genomes]
rs1208634	0.84[EUR][1000 genomes]
rs1208635	0.84[EUR][1000 genomes]
rs1208636	0.84[EUR][1000 genomes]
rs1208639	0.87[EUR][1000 genomes]
rs1208642	0.87[EUR][1000 genomes]
rs1208644	0.87[EUR][1000 genomes]
rs1208646	0.85[EUR][1000 genomes]
rs1208647	0.87[EUR][1000 genomes]
rs1208648	0.87[EUR][1000 genomes]
rs1208649	0.87[EUR][1000 genomes]
rs1208650	0.87[EUR][1000 genomes]
rs1208651	0.84[EUR][1000 genomes]
rs1208652	0.84[EUR][1000 genomes]
rs1208655	0.84[EUR][1000 genomes]
rs1208656	0.84[EUR][1000 genomes]
rs1208657	0.82[EUR][1000 genomes]
rs1208659	0.84[EUR][1000 genomes]
rs1208660	0.84[EUR][1000 genomes]
rs1208661	0.84[EUR][1000 genomes]
rs1208662	0.84[EUR][1000 genomes]
rs1208664	0.84[EUR][1000 genomes]
rs1208665	0.80[EUR][1000 genomes]
rs1208666	0.84[EUR][1000 genomes]
rs1208667	0.84[EUR][1000 genomes]
rs1208669	0.84[EUR][1000 genomes]
rs1208670	0.84[EUR][1000 genomes]
rs1208671	0.84[EUR][1000 genomes]
rs1208672	0.84[EUR][1000 genomes]
rs1208673	0.84[EUR][1000 genomes]
rs1208674	0.84[EUR][1000 genomes]
rs1208676	0.85[EUR][1000 genomes]
rs1208677	0.85[EUR][1000 genomes]
rs1208678	0.85[EUR][1000 genomes]
rs1208679	0.85[EUR][1000 genomes]
rs1208680	0.85[EUR][1000 genomes]
rs1208682	0.85[EUR][1000 genomes]
rs1208685	0.85[EUR][1000 genomes]
rs1208686	0.87[EUR][1000 genomes]
rs1208687	0.87[EUR][1000 genomes]
rs1208688	0.87[EUR][1000 genomes]
rs1208690	0.87[EUR][1000 genomes]
rs1208692	0.87[EUR][1000 genomes]
rs1208693	0.87[EUR][1000 genomes]
rs1208694	0.87[EUR][1000 genomes]
rs1208696	0.83[EUR][1000 genomes]
rs1208698	0.87[EUR][1000 genomes]
rs1208699	0.87[EUR][1000 genomes]
rs1208701	0.87[EUR][1000 genomes]
rs1208702	0.87[EUR][1000 genomes]
rs1208703	0.87[EUR][1000 genomes]
rs1208704	0.84[EUR][1000 genomes]
rs1208705	0.87[EUR][1000 genomes]
rs1208706	0.85[EUR][1000 genomes]
rs1208707	0.85[EUR][1000 genomes]
rs1208709	0.85[EUR][1000 genomes]
rs1208710	0.85[EUR][1000 genomes]
rs1208711	0.85[EUR][1000 genomes]
rs1208712	0.85[EUR][1000 genomes]
rs1208715	0.85[EUR][1000 genomes]
rs1208717	0.87[EUR][1000 genomes]
rs1208718	0.87[EUR][1000 genomes]
rs1208719	0.87[EUR][1000 genomes]
rs1208720	0.87[EUR][1000 genomes]
rs1208721	0.87[EUR][1000 genomes]
rs1208722	0.87[EUR][1000 genomes]
rs1208723	0.87[EUR][1000 genomes]
rs1208724	0.87[EUR][1000 genomes]
rs1208725	0.87[EUR][1000 genomes]
rs1208726	0.87[EUR][1000 genomes]
rs1208727	0.87[EUR][1000 genomes]
rs1208728	0.87[EUR][1000 genomes]
rs1208729	0.87[EUR][1000 genomes]
rs1208730	0.87[EUR][1000 genomes]
rs1208731	0.85[EUR][1000 genomes]
rs1208763	0.84[EUR][1000 genomes]
rs1208764	0.82[EUR][1000 genomes]
rs1208765	0.82[EUR][1000 genomes]
rs1208766	0.82[EUR][1000 genomes]
rs1208768	0.82[EUR][1000 genomes]
rs1208771	0.85[EUR][1000 genomes]
rs1208772	0.85[EUR][1000 genomes]
rs1208773	0.85[EUR][1000 genomes]
rs1208774	0.85[EUR][1000 genomes]
rs1208776	0.85[EUR][1000 genomes]
rs1208777	0.85[EUR][1000 genomes]
rs1208778	0.85[EUR][1000 genomes]
rs1209424	0.87[EUR][1000 genomes]
rs1209748	0.84[EUR][1000 genomes]
rs1210991	0.84[EUR][1000 genomes]
rs1211000	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1211422	0.84[EUR][1000 genomes]
rs1211708	0.87[EUR][1000 genomes]
rs1211709	0.85[EUR][1000 genomes]
rs1212107	0.82[EUR][1000 genomes]
rs1322315	0.82[EUR][1000 genomes]
rs1322320	0.81[EUR][1000 genomes]
rs1322321	0.82[EUR][1000 genomes]
rs1361894	0.82[EUR][1000 genomes]
rs1592338	0.84[EUR][1000 genomes]
rs1618829	0.82[EUR][1000 genomes]
rs1620971	0.82[EUR][1000 genomes]
rs1621236	0.84[EUR][1000 genomes]
rs1735587	0.84[EUR][1000 genomes]
rs1735591	0.84[EUR][1000 genomes]
rs1735601	0.87[EUR][1000 genomes]
rs1735610	0.84[EUR][1000 genomes]
rs1735622	0.84[EUR][1000 genomes]
rs1735623	0.84[EUR][1000 genomes]
rs1735624	0.84[EUR][1000 genomes]
rs1735626	0.84[EUR][1000 genomes]
rs1735627	0.82[EUR][1000 genomes]
rs1735628	0.84[EUR][1000 genomes]
rs1735631	0.84[EUR][1000 genomes]
rs1735634	0.84[EUR][1000 genomes]
rs1735635	0.84[EUR][1000 genomes]
rs1735636	0.84[EUR][1000 genomes]
rs1735637	0.83[EUR][1000 genomes]
rs1742229	0.82[EUR][1000 genomes]
rs1742230	0.82[EUR][1000 genomes]
rs1742231	0.82[EUR][1000 genomes]
rs1742232	0.82[EUR][1000 genomes]
rs1742233	0.81[EUR][1000 genomes]
rs1742234	0.82[EUR][1000 genomes]
rs1742236	0.82[EUR][1000 genomes]
rs1742238	0.82[EUR][1000 genomes]
rs1742240	0.82[EUR][1000 genomes]
rs1742242	0.82[EUR][1000 genomes]
rs1743811	0.87[EUR][1000 genomes]
rs1743812	0.87[EUR][1000 genomes]
rs1743813	0.87[EUR][1000 genomes]
rs1743814	0.83[EUR][1000 genomes]
rs17576786	0.82[EUR][1000 genomes]
rs17577243	0.82[EUR][1000 genomes]
rs17577299	0.82[EUR][1000 genomes]
rs17660470	0.82[EUR][1000 genomes]
rs17660553	0.82[EUR][1000 genomes]
rs17660785	0.82[EUR][1000 genomes]
rs17660828	0.82[EUR][1000 genomes]
rs17660840	0.82[EUR][1000 genomes]
rs1779009	0.82[EUR][1000 genomes]
rs1779018	0.84[EUR][1000 genomes]
rs1779019	0.84[EUR][1000 genomes]
rs1779020	0.84[EUR][1000 genomes]
rs1779021	0.84[EUR][1000 genomes]
rs1779022	0.84[EUR][1000 genomes]
rs1779025	0.82[EUR][1000 genomes]
rs1779028	0.84[EUR][1000 genomes]
rs1779029	0.84[EUR][1000 genomes]
rs1779030	0.82[EUR][1000 genomes]
rs1779031	0.84[EUR][1000 genomes]
rs1779036	0.84[EUR][1000 genomes]
rs1779047	0.82[EUR][1000 genomes]
rs1779048	0.81[EUR][1000 genomes]
rs1779049	0.82[EUR][1000 genomes]
rs1779050	0.82[EUR][1000 genomes]
rs1779051	0.82[EUR][1000 genomes]
rs1779052	0.82[EUR][1000 genomes]
rs1779061	0.84[EUR][1000 genomes]
rs1779064	0.82[EUR][1000 genomes]
rs1779065	0.82[EUR][1000 genomes]
rs1779066	0.83[EUR][1000 genomes]
rs1779072	0.84[EUR][1000 genomes]
rs1779074	0.84[EUR][1000 genomes]
rs1779076	0.84[EUR][1000 genomes]
rs1779078	0.84[EUR][1000 genomes]
rs1779089	0.87[EUR][1000 genomes]
rs1779132	0.87[EUR][1000 genomes]
rs1779144	0.83[EUR][1000 genomes]
rs1779151	0.82[EUR][1000 genomes]
rs1779155	0.80[EUR][1000 genomes]
rs1830613	0.82[EUR][1000 genomes]
rs1985654	0.82[EUR][1000 genomes]
rs1985655	0.81[EUR][1000 genomes]
rs2753875	0.81[EUR][1000 genomes]
rs3117562	0.81[EUR][1000 genomes]
rs4934595	0.82[EUR][1000 genomes]
rs4934596	0.82[EUR][1000 genomes]
rs4934904	0.82[EUR][1000 genomes]
rs4934905	0.82[EUR][1000 genomes]
rs4934908	0.82[EUR][1000 genomes]
rs4934909	0.82[EUR][1000 genomes]
rs4934913	0.82[EUR][1000 genomes]
rs58001845	0.87[EUR][1000 genomes]
rs61735514	0.84[EUR][1000 genomes]
rs7071116	0.81[EUR][1000 genomes]
rs7076726	0.84[EUR][1000 genomes]
rs7077782	0.84[EUR][1000 genomes]
rs7089949	0.84[EUR][1000 genomes]
rs73241926	0.84[EUR][1000 genomes]
rs7393766	0.84[EUR][1000 genomes]
rs743100	0.84[EUR][1000 genomes]
rs767263	0.85[EUR][1000 genomes]
rs767264	0.85[EUR][1000 genomes]
rs7916515	0.84[EUR][1000 genomes]
rs874860	0.85[EUR][1000 genomes]
rs9418284	0.81[EUR][1000 genomes]
rs9418285	0.82[EUR][1000 genomes]

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	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11593422	ZNF248	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38103800-38118000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:38109600-38116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:38109600-38116200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:38111000-38115800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:38111200-38117200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:38111200-38118400	Weak transcription	HepG2	liver
7	chr10:38112000-38114200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:38112000-38114400	Weak transcription	Primary T cells from cord blood	blood
9	chr10:38112000-38115800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:38112000-38116600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:38112200-38116400	Weak transcription	Fetal Brain Male	brain
12	chr10:38112800-38116000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:38112800-38116000	Weak transcription	Left Ventricle	heart
14	chr10:38112800-38116600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:38113000-38116400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr10:38113000-38116600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:38113200-38114400	Weak transcription	Ovary	ovary
18	chr10:38113200-38116200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:38113200-38116400	Weak transcription	Brain Anterior Caudate	brain
20	chr10:38113200-38117400	Weak transcription	Fetal Heart	heart
21	chr10:38113200-38118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:38113400-38114400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:38113400-38116000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:38113600-38116200	Weak transcription	Fetal Kidney	kidney
25	chr10:38113600-38116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:38113600-38117800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:38113600-38118000	Weak transcription	Brain Substantia Nigra	brain

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