Variant report

Variant	rs58817410
Chromosome Location	chr6:34779779-34779780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34769066..34771587-chr6:34778054..34780112,2	K562	blood:
2	chr6:34758429..34760082-chr6:34779569..34781687,2	K562	blood:
3	chr6:34773543..34776313-chr6:34779272..34782261,3	K562	blood:
4	chr6:34779065..34780836-chr6:34797089..34799244,2	K562	blood:
5	chr6:34777807..34780694-chr6:34854623..34856918,3	MCF-7	breast:
6	chr6:34759998..34762126-chr6:34777640..34780581,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065060	Chromatin interaction
ENSG00000064995	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1125342	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12173920	0.81[ASN][1000 genomes]
rs12175621	0.81[ASN][1000 genomes]
rs12176092	0.81[ASN][1000 genomes]
rs16894102	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16894945	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16894995	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16895362	0.82[ASN][1000 genomes]
rs16895467	0.81[ASN][1000 genomes]
rs2236392	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2273007	0.83[ASN][1000 genomes]
rs2764199	0.81[ASN][1000 genomes]
rs2814965	0.88[ASN][1000 genomes]
rs3734260	0.89[ASN][1000 genomes]
rs3734263	0.90[ASN][1000 genomes]
rs3736896	0.91[ASN][1000 genomes]
rs3756857	0.83[ASN][1000 genomes]
rs3756858	0.81[ASN][1000 genomes]
rs3777751	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798349	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798351	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3800447	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800455	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3800456	0.83[ASN][1000 genomes]
rs41438444	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4646923	0.81[ASN][1000 genomes]
rs56825685	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56842618	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56987113	0.88[EUR][1000 genomes]
rs57338415	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57637041	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57645599	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57916801	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58643640	0.88[EUR][1000 genomes]
rs58654146	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58833137	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59014029	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59851773	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59884600	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59952325	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60410089	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60439875	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60754257	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6939345	0.91[ASN][1000 genomes]
rs73413893	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73415706	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73415742	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73415758	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73415760	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73415779	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73415781	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73417752	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73417786	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73419615	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419643	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73419650	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73419656	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73419658	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73419660	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73419689	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73421513	0.83[ASN][1000 genomes]
rs73421528	0.82[ASN][1000 genomes]
rs7752237	0.81[ASN][1000 genomes]
rs7772600	0.83[ASN][1000 genomes]
rs9296126	0.83[ASN][1000 genomes]
rs9348952	0.83[ASN][1000 genomes]
rs9357186	0.83[ASN][1000 genomes]
rs9366871	0.83[ASN][1000 genomes]
rs9366873	0.81[ASN][1000 genomes]
rs9368840	0.81[ASN][1000 genomes]
rs9380451	0.81[ASN][1000 genomes]
rs9380471	0.81[ASN][1000 genomes]
rs9380472	0.82[ASN][1000 genomes]
rs9394253	0.83[ASN][1000 genomes]
rs9394257	0.81[ASN][1000 genomes]
rs9394258	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv885796	chr6:34739726-34823187	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34761400-34784200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:34761400-34787200	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:34761400-34789400	Weak transcription	Fetal Stomach	stomach
4	chr6:34761400-34789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:34761400-34790800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:34761600-34784200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:34761800-34784400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:34761800-34784800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:34762000-34788400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:34764000-34784400	Weak transcription	Fetal Intestine Large	intestine
11	chr6:34764000-34803800	Weak transcription	HSMM	muscle
12	chr6:34764200-34785000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:34764600-34787400	Weak transcription	Liver	Liver
14	chr6:34765400-34782200	Weak transcription	K562	blood
15	chr6:34766000-34784400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:34772600-34789400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:34773200-34791400	Weak transcription	Gastric	stomach
18	chr6:34774400-34780800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:34775400-34780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:34775400-34787200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:34775400-34787200	Weak transcription	Right Ventricle	heart
22	chr6:34775400-34802400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:34775600-34780800	Weak transcription	Adipose Nuclei	Adipose
24	chr6:34776600-34789600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:34777800-34789000	Weak transcription	Primary T cells from cord blood	blood
26	chr6:34778600-34787200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:34778800-34779800	Enhancers	Fetal Intestine Small	intestine
28	chr6:34778800-34779800	Flanking Active TSS	GM12878-XiMat	blood
29	chr6:34778800-34779800	Enhancers	HepG2	liver
30	chr6:34778800-34780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:34779000-34780400	Enhancers	Stomach Mucosa	stomach
32	chr6:34779200-34779800	Enhancers	Left Ventricle	heart
33	chr6:34779200-34779800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:34779200-34780000	Enhancers	Pancreas	Pancrea
35	chr6:34779200-34797000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:34779200-34807400	Weak transcription	A549	lung
37	chr6:34779400-34783800	Weak transcription	Fetal Heart	heart
38	chr6:34779400-34784000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:34779400-34787400	Weak transcription	HUVEC	blood vessel
40	chr6:34779400-34789400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:34779400-34789400	Weak transcription	Hela-S3	cervix
42	chr6:34779400-34796400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:34779400-34841000	Weak transcription	NH-A	brain
44	chr6:34779600-34779800	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:34779600-34780400	Enhancers	Right Atrium	heart
46	chr6:34779600-34780400	Weak transcription	Small Intestine	intestine
47	chr6:34779600-34783200	Enhancers	Psoas Muscle	Psoas
48	chr6:34779600-34791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:34779600-34791400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:34779600-34796200	Weak transcription	NHEK	skin

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