Variant report

Variant	rs11710926
Chromosome Location	chr3:140697527-140697528
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140658522..140661250-chr3:140695108..140698043,2	K562	blood:

Variant related genes	Relation type
ENSG00000114120	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1047330	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs1056126	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1056127	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10935413	0.87[ASN][1000 genomes]
rs10935414	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs1109282	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1109283	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11707116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11710204	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11711131	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713505	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713816	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs11714438	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715248	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717097	1.00[CEU][hapmap];0.93[JPT][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11717620	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11718539	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs11718563	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720342	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12489397	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs13063450	0.86[ASN][1000 genomes]
rs13099706	0.86[ASN][1000 genomes]
rs1568337	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1593624	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850915	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16850917	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850921	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850924	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16850926	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081662	0.86[ASN][1000 genomes]
rs2292919	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2311491	0.84[ASN][1000 genomes]
rs2555702	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs2555707	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2871615	0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35140461	0.89[ASN][1000 genomes]
rs3755764	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755765	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773835	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773837	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773838	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380393	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4524250	0.88[ASN][1000 genomes]
rs4528914	0.84[ASN][1000 genomes]
rs4538351	0.85[ASN][1000 genomes]
rs57151068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57526660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57799705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59128309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59221985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61052022	0.92[EUR][1000 genomes]
rs61151473	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61629363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61708145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439962	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439964	0.86[ASN][1000 genomes]
rs6764740	0.84[ASN][1000 genomes]
rs6770562	0.83[ASN][1000 genomes]
rs6772634	0.86[ASN][1000 genomes]
rs6773249	0.86[ASN][1000 genomes]
rs6785007	0.89[ASN][1000 genomes]
rs6785892	0.86[ASN][1000 genomes]
rs6788711	0.86[ASN][1000 genomes]
rs6789045	0.83[ASN][1000 genomes]
rs6789116	0.84[ASN][1000 genomes]
rs6797079	0.86[ASN][1000 genomes]
rs6810200	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713354	0.81[JPT][hapmap]
rs72991025	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72991046	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7621150	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs7626525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7632043	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7638206	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7643287	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs7643434	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs7643614	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs7644725	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs7649116	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs765990	0.86[ASN][1000 genomes]
rs877142	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs957093	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591865	chr3:140396022-140728850	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11710926	SLC25A36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140664200-140703800	Weak transcription	Aorta	Aorta
2	chr3:140665400-140698400	Weak transcription	Brain Germinal Matrix	brain
3	chr3:140665800-140697600	Weak transcription	Gastric	stomach
4	chr3:140670600-140698200	Weak transcription	Spleen	Spleen
5	chr3:140672200-140699000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:140672800-140698800	Weak transcription	Right Ventricle	heart
7	chr3:140672800-140700000	Weak transcription	Small Intestine	intestine
8	chr3:140673400-140698800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:140673400-140700200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:140673600-140699000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr3:140675000-140697600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:140675200-140699000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:140675600-140698200	Weak transcription	Pancreas	Pancrea
14	chr3:140679800-140699000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:140679800-140699600	Weak transcription	Left Ventricle	heart
16	chr3:140680000-140697600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:140680000-140698600	Weak transcription	HSMMtube	muscle
18	chr3:140680000-140699200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:140680000-140699600	Weak transcription	NHEK	skin
20	chr3:140690200-140697800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:140691600-140697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:140692000-140697600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:140692000-140697800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:140692000-140699000	Strong transcription	HSMM	muscle
25	chr3:140692200-140697600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr3:140692200-140697600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:140692200-140697600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr3:140692200-140698000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:140692600-140698600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:140692800-140698200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:140693000-140699800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:140693200-140698600	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:140693200-140698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:140693200-140698800	Strong transcription	Hela-S3	cervix
35	chr3:140693200-140699600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr3:140693800-140697600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:140694400-140698200	Weak transcription	Ovary	ovary
38	chr3:140694600-140698000	Weak transcription	HepG2	liver
39	chr3:140695400-140697600	Weak transcription	K562	blood
40	chr3:140695400-140698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:140695400-140699200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:140695600-140698400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:140695600-140698600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr3:140695600-140698600	Weak transcription	Fetal Kidney	kidney
45	chr3:140695600-140699000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:140695600-140699800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:140695600-140700600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:140695800-140698800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr3:140695800-140698800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:140695800-140700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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