Variant report

Variant	rs72746995
Chromosome Location	chr5:41910521-41910522
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41903420..41907025-chr5:41907482..41911451,8	MCF-7	breast:
2	chr5:41908677..41910534-chr5:41913765..41916723,2	MCF-7	breast:
3	chr5:41903099..41906960-chr5:41907853..41912550,6	MCF-7	breast:
4	chr5:41869025..41871587-chr5:41909910..41912396,2	K562	blood:

Variant related genes	Relation type
ENSG00000205765	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000083720	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10035434	1.00[EUR][1000 genomes]
rs10040757	1.00[EUR][1000 genomes]
rs10043326	1.00[EUR][1000 genomes]
rs10043371	1.00[EUR][1000 genomes]
rs10045473	1.00[EUR][1000 genomes]
rs10051322	1.00[EUR][1000 genomes]
rs10052226	1.00[EUR][1000 genomes]
rs10053522	1.00[EUR][1000 genomes]
rs10054130	1.00[EUR][1000 genomes]
rs10057546	1.00[EUR][1000 genomes]
rs10057587	1.00[EUR][1000 genomes]
rs10057645	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	1.00[EUR][1000 genomes]
rs10065335	1.00[EUR][1000 genomes]
rs10069638	1.00[EUR][1000 genomes]
rs10070201	1.00[EUR][1000 genomes]
rs10075429	1.00[EUR][1000 genomes]
rs10076689	1.00[EUR][1000 genomes]
rs10077481	0.95[EUR][1000 genomes]
rs10078011	0.95[EUR][1000 genomes]
rs10079651	1.00[EUR][1000 genomes]
rs1027348	0.95[EUR][1000 genomes]
rs10472357	1.00[EUR][1000 genomes]
rs10472359	0.87[EUR][1000 genomes]
rs10473252	1.00[EUR][1000 genomes]
rs10473255	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11738956	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11745460	1.00[EUR][1000 genomes]
rs11745530	1.00[EUR][1000 genomes]
rs11746530	1.00[EUR][1000 genomes]
rs11747648	1.00[EUR][1000 genomes]
rs11748933	1.00[EUR][1000 genomes]
rs13355194	1.00[EUR][1000 genomes]
rs13357951	1.00[EUR][1000 genomes]
rs13358459	1.00[EUR][1000 genomes]
rs1567323	1.00[EUR][1000 genomes]
rs16872052	1.00[EUR][1000 genomes]
rs16872099	0.82[AMR][1000 genomes]
rs170299	0.87[EUR][1000 genomes]
rs17339188	1.00[EUR][1000 genomes]
rs2113053	0.83[EUR][1000 genomes]
rs2231910	1.00[EUR][1000 genomes]
rs28647448	1.00[EUR][1000 genomes]
rs316746	0.87[EUR][1000 genomes]
rs316747	0.87[EUR][1000 genomes]
rs316748	0.87[EUR][1000 genomes]
rs316749	0.87[EUR][1000 genomes]
rs316750	0.87[EUR][1000 genomes]
rs316752	0.87[EUR][1000 genomes]
rs316754	0.87[EUR][1000 genomes]
rs316756	0.87[EUR][1000 genomes]
rs316757	0.87[EUR][1000 genomes]
rs316758	0.87[EUR][1000 genomes]
rs34493032	1.00[EUR][1000 genomes]
rs35890705	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]
rs6870241	0.82[AMR][1000 genomes]
rs72746926	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72746928	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72746930	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72746932	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72746933	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72746952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72746962	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72746966	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72746967	0.84[AMR][1000 genomes]
rs72746968	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72746974	0.84[AMR][1000 genomes]
rs72746975	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72746983	0.95[EUR][1000 genomes]
rs72746985	1.00[EUR][1000 genomes]
rs72746996	0.95[EUR][1000 genomes]
rs72746997	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72746999	1.00[EUR][1000 genomes]
rs72747000	1.00[EUR][1000 genomes]
rs72747001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72747002	1.00[EUR][1000 genomes]
rs72748607	1.00[EUR][1000 genomes]
rs72748608	1.00[EUR][1000 genomes]
rs72748609	1.00[EUR][1000 genomes]
rs72748611	1.00[EUR][1000 genomes]
rs72748613	1.00[EUR][1000 genomes]
rs72748614	1.00[EUR][1000 genomes]
rs72748616	1.00[EUR][1000 genomes]
rs72748619	1.00[EUR][1000 genomes]
rs72748620	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748623	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72748631	0.86[AMR][1000 genomes]
rs72748633	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72748645	0.82[AMR][1000 genomes]
rs72748646	0.82[AMR][1000 genomes]
rs72761834	0.87[EUR][1000 genomes]
rs7341062	1.00[EUR][1000 genomes]
rs7705184	0.92[AFR][1000 genomes]
rs7712106	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[EUR][1000 genomes]
rs9885033	1.00[EUR][1000 genomes]
rs9885117	1.00[EUR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41905000-41924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:41905200-41912600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:41905200-41912600	Weak transcription	Fetal Stomach	stomach
4	chr5:41905200-41915400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:41905200-41918200	Weak transcription	Aorta	Aorta
6	chr5:41905200-41925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:41905600-41911200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:41905600-41912600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:41905600-41912600	Weak transcription	Lung	lung
10	chr5:41905600-41912600	Weak transcription	Thymus	Thymus
11	chr5:41905600-41912800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:41905600-41921000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:41905600-41924600	Weak transcription	Small Intestine	intestine
14	chr5:41905800-41911400	Weak transcription	Brain Germinal Matrix	brain
15	chr5:41905800-41911400	Weak transcription	Fetal Brain Male	brain
16	chr5:41905800-41912200	Weak transcription	NHEK	skin
17	chr5:41905800-41912600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:41905800-41912600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:41905800-41912600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:41905800-41912600	Weak transcription	Pancreas	Pancrea
21	chr5:41905800-41912800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:41905800-41918200	Weak transcription	Psoas Muscle	Psoas
23	chr5:41905800-41918200	Weak transcription	Spleen	Spleen
24	chr5:41905800-41922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:41905800-41923800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:41905800-41924400	Weak transcription	Stomach Mucosa	stomach
27	chr5:41905800-41925000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:41905800-41925000	Weak transcription	Gastric	stomach
29	chr5:41906200-41921200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:41906400-41916400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:41906400-41920600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:41906400-41921000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:41906400-41922200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr5:41906600-41918200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr5:41906800-41924600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:41907000-41922200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:41907000-41923600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:41907200-41912800	Weak transcription	Right Ventricle	heart
39	chr5:41907200-41914400	Weak transcription	Fetal Intestine Small	intestine
40	chr5:41907200-41915600	Strong transcription	K562	blood
41	chr5:41907200-41922400	Strong transcription	Liver	Liver
42	chr5:41907400-41920600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:41907400-41921600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:41907600-41914400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr5:41907600-41921000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr5:41907800-41911400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:41907800-41913600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr5:41907800-41914600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:41907800-41915600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:41907800-41915600	Strong transcription	Hela-S3	cervix

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