Variant report

Variant	rs7712106
Chromosome Location	chr5:41928857-41928858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41927254..41930228-chr5:41945140..41947129,2	K562	blood:
2	chr5:41920030..41922138-chr5:41926101..41928998,2	MCF-7	breast:
3	chr5:41866693..41874585-chr5:41920680..41930326,14	K562	blood:
4	chr5:41923958..41925528-chr5:41925960..41928931,2	MCF-7	breast:
5	chr5:41868930..41871044-chr5:41928744..41930786,2	MCF-7	breast:
6	chr5:41923702..41927388-chr5:41928373..41931885,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151876	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000248668	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10035434	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10040757	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10043326	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10043371	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10044526	0.88[AMR][1000 genomes]
rs10045473	1.00[EUR][1000 genomes]
rs10051322	1.00[EUR][1000 genomes]
rs10052226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10053522	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10054130	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057546	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10057645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10059424	0.97[EUR][1000 genomes]
rs10060170	1.00[EUR][1000 genomes]
rs10062703	1.00[EUR][1000 genomes]
rs10064298	1.00[EUR][1000 genomes]
rs10064380	0.95[EUR][1000 genomes]
rs10065016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10065335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10069638	1.00[EUR][1000 genomes]
rs10070201	1.00[EUR][1000 genomes]
rs10075429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10076689	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10077481	0.95[EUR][1000 genomes]
rs10078011	0.95[EUR][1000 genomes]
rs10079651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1027348	0.95[EUR][1000 genomes]
rs10472357	1.00[EUR][1000 genomes]
rs10472359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10473252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10473255	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11738449	0.82[AMR][1000 genomes]
rs11738956	0.95[EUR][1000 genomes]
rs11742939	0.82[AMR][1000 genomes]
rs11745460	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11745530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11746530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11747648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11748933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13355194	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357951	1.00[EUR][1000 genomes]
rs13358459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360765	0.88[AMR][1000 genomes]
rs1567323	1.00[EUR][1000 genomes]
rs16872052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872094	0.85[AMR][1000 genomes]
rs16872097	0.88[AMR][1000 genomes]
rs16872100	0.82[AMR][1000 genomes]
rs17339188	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1813615	0.82[AMR][1000 genomes]
rs1813616	0.82[AMR][1000 genomes]
rs2011105	0.82[AMR][1000 genomes]
rs2113053	0.83[EUR][1000 genomes]
rs2231910	1.00[EUR][1000 genomes]
rs28647448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34493032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35890705	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4957178	1.00[EUR][1000 genomes]
rs4957180	1.00[EUR][1000 genomes]
rs4957436	1.00[EUR][1000 genomes]
rs4957437	1.00[EUR][1000 genomes]
rs4957438	1.00[EUR][1000 genomes]
rs57944767	0.90[EUR][1000 genomes]
rs582920	0.92[EUR][1000 genomes]
rs583090	0.87[EUR][1000 genomes]
rs584067	0.90[EUR][1000 genomes]
rs590851	0.90[EUR][1000 genomes]
rs591384	0.85[EUR][1000 genomes]
rs602274	0.90[EUR][1000 genomes]
rs607620	0.87[EUR][1000 genomes]
rs61058110	0.95[EUR][1000 genomes]
rs621944	0.87[EUR][1000 genomes]
rs627476	0.87[EUR][1000 genomes]
rs641270	0.87[EUR][1000 genomes]
rs654400	0.87[EUR][1000 genomes]
rs67152480	0.95[EUR][1000 genomes]
rs678061	0.92[EUR][1000 genomes]
rs72746926	0.95[EUR][1000 genomes]
rs72746928	0.95[EUR][1000 genomes]
rs72746930	0.95[EUR][1000 genomes]
rs72746932	0.95[EUR][1000 genomes]
rs72746933	0.93[EUR][1000 genomes]
rs72746952	0.95[EUR][1000 genomes]
rs72746962	0.90[EUR][1000 genomes]
rs72746966	0.95[EUR][1000 genomes]
rs72746968	0.95[EUR][1000 genomes]
rs72746975	0.95[EUR][1000 genomes]
rs72746983	0.95[EUR][1000 genomes]
rs72746985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72746995	1.00[EUR][1000 genomes]
rs72746996	0.95[EUR][1000 genomes]
rs72746997	0.95[EUR][1000 genomes]
rs72746999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72747000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72747001	1.00[EUR][1000 genomes]
rs72747002	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748609	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748613	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748614	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748616	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748619	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748620	1.00[EUR][1000 genomes]
rs72748623	0.83[EUR][1000 genomes]
rs72748635	0.85[AMR][1000 genomes]
rs72748641	0.82[AMR][1000 genomes]
rs7341062	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7723992	1.00[EUR][1000 genomes]
rs9292826	0.95[EUR][1000 genomes]
rs9292828	0.95[EUR][1000 genomes]
rs9292832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885117	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs989747	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41926000-41935400	Weak transcription	Aorta	Aorta
2	chr5:41926000-41937600	Weak transcription	Fetal Brain Male	brain
3	chr5:41926000-41937600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:41926000-41940600	Weak transcription	Ovary	ovary
5	chr5:41926000-41951400	Weak transcription	Gastric	stomach
6	chr5:41926200-41929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:41926200-41929400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:41926200-41929800	Weak transcription	HMEC	breast
9	chr5:41926200-41930000	Enhancers	HepG2	liver
10	chr5:41926200-41931600	Weak transcription	Fetal Thymus	thymus
11	chr5:41926200-41931800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:41926200-41932800	Weak transcription	Small Intestine	intestine
13	chr5:41926200-41933200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:41926200-41934000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:41926200-41934000	Weak transcription	Placenta	Placenta
16	chr5:41926200-41934200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:41926200-41934200	Weak transcription	Brain Substantia Nigra	brain
18	chr5:41926200-41934200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:41926200-41934200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:41926200-41934200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:41926200-41935000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:41926200-41935400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:41926200-41935400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:41926200-41935400	Weak transcription	Brain Angular Gyrus	brain
25	chr5:41926200-41935400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:41926200-41935400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:41926200-41935400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:41926200-41935400	Weak transcription	Fetal Stomach	stomach
29	chr5:41926200-41935400	Weak transcription	Left Ventricle	heart
30	chr5:41926200-41935400	Weak transcription	Lung	lung
31	chr5:41926200-41935400	Weak transcription	Psoas Muscle	Psoas
32	chr5:41926200-41935400	Weak transcription	Right Ventricle	heart
33	chr5:41926200-41936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:41926200-41937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:41926200-41937400	Weak transcription	Fetal Brain Female	brain
36	chr5:41926200-41937400	Weak transcription	Fetal Kidney	kidney
37	chr5:41926200-41939000	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:41926200-41940800	Weak transcription	HSMMtube	muscle
39	chr5:41926200-41940800	Weak transcription	NHDF-Ad	bronchial
40	chr5:41926200-41941000	Weak transcription	NHLF	lung
41	chr5:41926200-41943200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:41926200-41945000	Weak transcription	HSMM	muscle
43	chr5:41926200-41945200	Weak transcription	Esophagus	oesophagus
44	chr5:41926200-41945400	Weak transcription	Fetal Lung	lung
45	chr5:41926200-41946800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:41926200-41947000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:41926400-41929800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:41926400-41929800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:41926400-41929800	Weak transcription	Hela-S3	cervix
50	chr5:41926400-41931200	Weak transcription	Primary B cells from cord blood	blood

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