Variant report

Variant	rs10064357
Chromosome Location	chr5:127417272-127417273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:127417180-127417330	GM12871	blood:	n/a	n/a
2	EBF1	chr5:127416952-127417565	GM12878	blood:	n/a	n/a
3	CTCF	chr5:127417240-127417390	HCM	heart:	n/a	n/a
4	CTCF	chr5:127417260-127417410	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr5:127416591-127419822	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr5:127417260-127417410	GM12870	blood:	n/a	n/a
7	ARID3A	chr5:127417222-127417454	HepG2	liver:	n/a	n/a
8	CHD1	chr5:127417209-127417730	GM12878	blood:	n/a	n/a
9	KAP1	chr5:127416892-127417660	HEK293	kidney:	n/a	n/a
10	CTCF	chr5:127417140-127417290	HMEC	breast:	n/a	n/a
11	MXI1	chr5:127416807-127421055	SK-N-SH	brain:	n/a	chr5:127418982-127418997
12	POLR2A	chr5:127416346-127417335	GM12878	blood:	n/a	n/a
13	CTCF	chr5:127416890-127417645	K562	blood:	n/a	n/a
14	CTCF	chr5:127417140-127417290	HEEpiC	esophagus:	n/a	n/a
15	POLR2A	chr5:127416754-127420919	GM18505	blood:	n/a	n/a
16	CTCF	chr5:127417180-127417330	Caco-2	colon:	n/a	n/a
17	POLR2A	chr5:127416814-127420822	GM19099	blood:	n/a	n/a
18	MXI1	chr5:127416944-127417693	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:127415676-127419783	GM12891	blood:	n/a	n/a
20	CTCF	chr5:127417053-127417440	GM12878	blood:	n/a	n/a
21	CTCF	chr5:127417240-127417390	HCFaa	heart:	n/a	n/a
22	CTCF	chr5:127417243-127417560	IMR90	lung:	n/a	n/a
23	CTCF	chr5:127417140-127417290	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr5:127417200-127417350	GM12864	blood:	n/a	n/a
25	POLR2A	chr5:127416117-127419653	K562	blood:	n/a	n/a
26	POLR2A	chr5:127415707-127420942	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:127417233-127419876	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127410989..127412593-chr5:127415197..127417314,3	K562	blood:
2	chr5:127267226..127272789-chr5:127416073..127421756,7	MCF-7	breast:
3	chr5:127267836..127272333-chr5:127416528..127421531,14	MCF-7	breast:

No data

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

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10045113	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10045307	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10057122	0.81[AMR][1000 genomes]
rs10059867	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10060181	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10060390	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10061367	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10064098	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10089	0.83[EUR][1000 genomes]
rs1012851	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10223203	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1036171	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10463838	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10463839	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10478796	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10478798	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10478803	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11957052	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13355233	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13356473	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13357268	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13358455	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1432614	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432615	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1559263	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1560636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17164310	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17164427	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17764954	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1842006	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1864922	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1864923	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962291	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1985268	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2016015	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2054444	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2190797	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2228112	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2409109	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2898096	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3087889	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35212223	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3792866	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805606	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3805607	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805612	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3805615	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3816006	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835940	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835941	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835943	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835944	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4835945	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4836358	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836359	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4836360	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836361	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836363	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4836366	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4836367	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4836368	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836369	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836370	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56066100	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58433932	0.89[AMR][1000 genomes]
rs60964984	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62373701	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595798	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6595800	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595806	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595807	0.83[EUR][1000 genomes]
rs6862701	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6873339	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6875982	0.83[EUR][1000 genomes]
rs6879970	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6887674	0.83[EUR][1000 genomes]
rs6887847	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794392	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72794396	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72794400	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72794401	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs736969	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs758179	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7703634	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7713860	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7718286	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7732599	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs891886	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9968597	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[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:103 , 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	chr5:127379000-127417400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:127390200-127417600	Weak transcription	Psoas Muscle	Psoas
5	chr5:127391000-127417600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:127394200-127418000	Weak transcription	Lung	lung
7	chr5:127398400-127417400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:127399000-127417400	Weak transcription	HSMM	muscle
9	chr5:127409200-127418000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:127409400-127417800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:127410000-127417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:127410000-127418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:127410200-127417800	Weak transcription	Left Ventricle	heart
14	chr5:127413000-127417600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:127414000-127417800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr5:127414200-127417600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:127414200-127418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:127414400-127417400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:127414400-127417600	Enhancers	Primary T cells from cord blood	blood
20	chr5:127414800-127417800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:127415000-127417400	Enhancers	Brain Substantia Nigra	brain
22	chr5:127415000-127417600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:127415000-127417600	Weak transcription	Brain Germinal Matrix	brain
24	chr5:127415200-127417400	Weak transcription	NHLF	lung
25	chr5:127415400-127417400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr5:127415600-127417600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:127415800-127417600	Weak transcription	Fetal Thymus	thymus
28	chr5:127415800-127417600	Weak transcription	Gastric	stomach
29	chr5:127415800-127418000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:127416000-127417400	Flanking Active TSS	K562	blood
31	chr5:127416000-127418000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr5:127416200-127417400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:127416200-127417400	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr5:127416200-127417400	Enhancers	Fetal Intestine Large	intestine
35	chr5:127416200-127417400	Enhancers	Fetal Lung	lung
36	chr5:127416200-127417400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:127416200-127417400	Enhancers	Thymus	Thymus
38	chr5:127416200-127417600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:127416200-127417800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr5:127416200-127418000	Enhancers	Primary B cells from cord blood	blood
41	chr5:127416200-127420200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr5:127416400-127417400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:127416400-127417400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr5:127416400-127417400	Enhancers	HepG2	liver
45	chr5:127416400-127417400	Enhancers	HUVEC	blood vessel
46	chr5:127416400-127417600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:127416400-127418600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:127416400-127418600	Flanking Active TSS	Dnd41	blood
49	chr5:127416600-127417400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:127416600-127417400	Enhancers	Fetal Muscle Leg	muscle

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