Variant report

Variant	rs11747648
Chromosome Location	chr5:41935404-41935405
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	chr5:41930289..41936071-chr5:41937157..41941709,9	K562	blood:
2	chr5:41929223..41932201-chr5:41933782..41936776,4	K562	blood:

Variant related genes	Relation type
ENSG00000151876	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

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[CEU][hapmap];1.00[EUR][1000 genomes]
rs10051322	1.00[EUR][1000 genomes]
rs10052226	1.00[CEU][hapmap];1.00[YRI][hapmap];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	1.00[CEU][hapmap];1.00[YRI][hapmap];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	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10060170	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10062703	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10064298	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10064380	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10065016	1.00[CEU][hapmap];0.94[YRI][hapmap];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[CEU][hapmap];1.00[EUR][1000 genomes]
rs10070201	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10075429	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10076689	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10077481	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10078011	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10079651	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1027348	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10472357	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10472359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10473252	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10473255	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11738449	0.82[AMR][1000 genomes]
rs11738956	0.95[EUR][1000 genomes]
rs11741731	1.00[CEU][hapmap];0.89[YRI][hapmap]
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]
rs11748575	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11748578	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11748933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13353950	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs13355194	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357951	1.00[EUR][1000 genomes]
rs13357980	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs13358459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360765	0.88[AMR][1000 genomes]
rs13436920	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1567323	1.00[EUR][1000 genomes]
rs16872052	1.00[CEU][hapmap];1.00[YRI][hapmap];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[CEU][hapmap];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]
rs4957434	1.00[CEU][hapmap]
rs4957436	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4957437	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4957438	1.00[CEU][hapmap];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]
rs61058110	0.95[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]
rs7712106	1.00[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	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9292832	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885033	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885117	1.00[CEU][hapmap];0.94[YRI][hapmap];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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41926000-41937600	Weak transcription	Fetal Brain Male	brain
2	chr5:41926000-41937600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:41926000-41940600	Weak transcription	Ovary	ovary
4	chr5:41926000-41951400	Weak transcription	Gastric	stomach
5	chr5:41926200-41936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:41926200-41937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:41926200-41937400	Weak transcription	Fetal Brain Female	brain
8	chr5:41926200-41937400	Weak transcription	Fetal Kidney	kidney
9	chr5:41926200-41939000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:41926200-41940800	Weak transcription	HSMMtube	muscle
11	chr5:41926200-41940800	Weak transcription	NHDF-Ad	bronchial
12	chr5:41926200-41941000	Weak transcription	NHLF	lung
13	chr5:41926200-41943200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:41926200-41945000	Weak transcription	HSMM	muscle
15	chr5:41926200-41945200	Weak transcription	Esophagus	oesophagus
16	chr5:41926200-41945400	Weak transcription	Fetal Lung	lung
17	chr5:41926200-41946800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:41926200-41947000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:41926400-41936800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:41926400-41937000	Weak transcription	Osteobl	bone
21	chr5:41926400-41939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:41926400-41940600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:41926400-41940600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:41926400-41941600	Weak transcription	Fetal Intestine Small	intestine
25	chr5:41926400-41942800	Weak transcription	Thymus	Thymus
26	chr5:41926800-41946200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:41927400-41940600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:41928000-41937400	Weak transcription	GM12878-XiMat	blood
29	chr5:41929600-41942800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:41929800-41936800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:41930000-41940600	Weak transcription	HepG2	liver
32	chr5:41930600-41943000	Weak transcription	Hela-S3	cervix
33	chr5:41931200-41937600	Strong transcription	Primary B cells from cord blood	blood
34	chr5:41931600-41936200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:41931600-41939600	Strong transcription	Liver	Liver
36	chr5:41932000-41936600	Strong transcription	Primary T cells from cord blood	blood
37	chr5:41932200-41937200	Weak transcription	A549	lung
38	chr5:41933000-41936400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:41933000-41942200	Weak transcription	Small Intestine	intestine
40	chr5:41933200-41936600	Weak transcription	NHEK	skin
41	chr5:41933600-41936000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:41933600-41936400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:41933800-41937600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr5:41934000-41936000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:41934000-41936000	Strong transcription	Brain Hippocampus Middle	brain
46	chr5:41934000-41936200	Strong transcription	Placenta	Placenta
47	chr5:41934000-41936200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:41934000-41936800	Strong transcription	Adipose Nuclei	Adipose
49	chr5:41934000-41937000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr5:41934000-41937200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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