Variant report

Variant	rs62373701
Chromosome Location	chr5:127416294-127416295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:127416167-127416446	MCF10A-Er-Src	breast:	n/a	n/a
2	ELF1	chr5:127416194-127416463	K562	blood:	n/a	chr5:127416334-127416347
3	POLR2A	chr5:127415676-127419783	GM12891	blood:	n/a	n/a
4	POLR2A	chr5:127416117-127419653	K562	blood:	n/a	n/a
5	RUNX3	chr5:127416115-127416541	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:127415707-127420942	GM12878	blood:	n/a	n/a
7	IKZF1	chr5:127416103-127416298	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127410989..127412593-chr5:127415197..127417314,3	K562	blood:
2	chr5:127267226..127272789-chr5:127416073..127421756,7	MCF-7	breast:

Variant related genes	Relation type
SLC12A2	TF binding region
ENSG00000230561	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10045113	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10045307	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10060181	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10060390	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10061367	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10064098	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10064357	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1012851	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1036171	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10478796	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10478798	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10478803	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13355233	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13356473	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13357268	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13358455	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1432614	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432615	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1560636	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17164310	0.81[ASN][1000 genomes]
rs17164427	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17764954	0.80[ASN][1000 genomes]
rs1842006	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1864922	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1864923	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1962291	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1985268	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054444	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2190797	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228112	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2409109	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2898096	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35212223	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3792866	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3805606	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3805607	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3805612	0.81[AMR][1000 genomes]
rs3805615	0.82[AMR][1000 genomes]
rs3816006	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4835940	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835941	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835943	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836358	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836359	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836360	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836361	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836363	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4836366	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4836367	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4836368	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836369	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836370	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56066100	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58433932	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60964984	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6595798	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595800	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595806	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6862701	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6873339	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6879970	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6887847	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72794396	0.81[ASN][1000 genomes]
rs736969	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs758179	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7713860	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7718286	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7732599	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs891886	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9968597	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3527607	chr5:127406703-127421401	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3527608	chr5:127406703-127421401	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1812864	chr5:127408921-127427533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv599678	chr5:127409159-127418738	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv599683	chr5:127409374-127418738	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv599695	chr5:127409804-127418738	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
2	chr5:127374600-127418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:127378000-127416600	Weak transcription	Spleen	Spleen
4	chr5:127379000-127417400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:127386600-127417000	Weak transcription	Adipose Nuclei	Adipose
6	chr5:127389600-127417000	Weak transcription	Fetal Heart	heart
7	chr5:127390200-127417600	Weak transcription	Psoas Muscle	Psoas
8	chr5:127390400-127416600	Weak transcription	Fetal Stomach	stomach
9	chr5:127391000-127417600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:127391400-127416600	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:127394200-127418000	Weak transcription	Lung	lung
12	chr5:127394600-127416800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:127396000-127417000	Weak transcription	Ovary	ovary
14	chr5:127398400-127417400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:127398600-127416600	Weak transcription	Osteobl	bone
16	chr5:127399000-127417400	Weak transcription	HSMM	muscle
17	chr5:127404400-127416400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:127406200-127417000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:127409200-127418000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:127409400-127417800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:127410000-127417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:127410000-127418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:127410200-127417000	Weak transcription	Aorta	Aorta
24	chr5:127410200-127417000	Weak transcription	Fetal Kidney	kidney
25	chr5:127410200-127417800	Weak transcription	Left Ventricle	heart
26	chr5:127413000-127417600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:127414000-127417800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:127414200-127416400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr5:127414200-127417600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:127414200-127418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:127414400-127416400	Enhancers	Dnd41	blood
32	chr5:127414400-127416600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:127414400-127416800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:127414400-127417000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:127414400-127417400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:127414400-127417600	Enhancers	Primary T cells from cord blood	blood
37	chr5:127414600-127416400	Active TSS	GM12878-XiMat	blood
38	chr5:127414600-127416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:127414800-127416800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:127414800-127416800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:127414800-127417200	Weak transcription	Right Atrium	heart
42	chr5:127414800-127417800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr5:127415000-127416400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:127415000-127416600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:127415000-127417200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr5:127415000-127417400	Enhancers	Brain Substantia Nigra	brain
47	chr5:127415000-127417600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:127415000-127417600	Weak transcription	Brain Germinal Matrix	brain
49	chr5:127415200-127416400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr5:127415200-127416400	Weak transcription	Rectal Mucosa Donor 31	rectum

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