Variant report

Variant	rs60574213
Chromosome Location	chr6:133085962-133085963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:133085521-133086511	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:133085444-133085966	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:133085518-133086019	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr6:133085840-133085990	HEEpiC	esophagus:	n/a	n/a
5	CTCF	chr6:133085820-133085970	RPTEC	kidney:	n/a	n/a
6	CTCF	chr6:133085820-133085970	HCFaa	heart:	n/a	n/a
7	FOS	chr6:133085440-133086079	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:133084415..133087080-chr6:133134762..133137402,2	MCF-7	breast:
2	chr6:133054047..133059196-chr6:133082600..133087082,5	MCF-7	breast:
3	chr6:133084618..133086907-chr6:133118822..133121566,2	K562	blood:
4	chr6:133084942..133087324-chr6:133134860..133137280,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS12-3	chr6:133085799-133086597	NONHSAT114973

No data

Variant related genes	Relation type
VNN2	TF binding region
ENSG00000093134	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000146409	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11755373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34988221	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3756973	0.82[EUR][1000 genomes]
rs58155972	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59215803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59436045	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59989552	0.96[EUR][1000 genomes]
rs61632110	0.96[EUR][1000 genomes]
rs73548506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73548522	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73550478	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73554430	0.96[EUR][1000 genomes]
rs998630	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133061400-133098000	Weak transcription	Spleen	Spleen
2	chr6:133065000-133098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:133081400-133096800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:133081800-133086800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:133083200-133086000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:133083200-133086600	Enhancers	Fetal Intestine Large	intestine
7	chr6:133083400-133090600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:133083600-133099000	Weak transcription	Left Ventricle	heart
9	chr6:133083800-133118200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:133084000-133089000	Weak transcription	Fetal Intestine Small	intestine
11	chr6:133084600-133086000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:133084600-133087000	Enhancers	Fetal Stomach	stomach
13	chr6:133084600-133091200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:133084800-133086400	Enhancers	HMEC	breast
15	chr6:133084800-133086400	Enhancers	NHLF	lung
16	chr6:133084800-133089400	Weak transcription	Fetal Thymus	thymus
17	chr6:133084800-133091800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:133084800-133097000	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:133085000-133086000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:133085000-133086000	Enhancers	Hela-S3	cervix
21	chr6:133085000-133086000	Enhancers	NHEK	skin
22	chr6:133085000-133086400	Enhancers	Adipose Nuclei	Adipose
23	chr6:133085000-133086600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:133085000-133086600	Enhancers	NHDF-Ad	bronchial
25	chr6:133085000-133109000	Weak transcription	GM12878-XiMat	blood
26	chr6:133085000-133114600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:133085000-133119000	Weak transcription	Thymus	Thymus
28	chr6:133085200-133086000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:133085200-133086000	Enhancers	HSMMtube	muscle
30	chr6:133085200-133086000	Enhancers	NH-A	brain
31	chr6:133085200-133086200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:133085200-133086200	Enhancers	Osteobl	bone
33	chr6:133085200-133086400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:133085200-133086600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:133085200-133089800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:133085200-133090000	Weak transcription	Primary B cells from cord blood	blood
37	chr6:133085200-133112200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:133085200-133119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:133085400-133086000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:133085400-133086400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:133085400-133089000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:133085400-133089200	Weak transcription	Liver	Liver
43	chr6:133085400-133090000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:133085400-133091200	Weak transcription	Primary T cells from cord blood	blood
45	chr6:133085400-133091200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr6:133085400-133114400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:133085600-133086000	Enhancers	Fetal Kidney	kidney
48	chr6:133085600-133086200	Weak transcription	A549	lung
49	chr6:133085600-133086400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:133085600-133088200	Weak transcription	Monocytes-CD14+_RO01746	blood

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