Variant report

Variant	rs3130013
Chromosome Location	chr6:33313427-33313428
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33238537..33240118-chr6:33311856..33313641,2	MCF-7	breast:
2	chr6:33281976..33284870-chr6:33311530..33313501,2	MCF-7	breast:
3	chr6:33290770..33293136-chr6:33311818..33314008,3	K562	blood:
4	chr6:33312611..33314569-chr6:33348124..33350169,2	K562	blood:
5	chr6:33306953..33310348-chr6:33311762..33315181,4	K562	blood:
6	chr6:33290770..33293181-chr6:33311818..33314341,3	K562	blood:
7	chr6:33311665..33314646-chr6:33394060..33395716,2	K562	blood:

Variant related genes	Relation type
ENSG00000231925	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000204209	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs172435	0.90[EUR][1000 genomes]
rs1755038	1.00[ASN][1000 genomes]
rs1755040	1.00[ASN][1000 genomes]
rs1977139	0.93[EUR][1000 genomes]
rs210153	1.00[ASN][1000 genomes]
rs210190	1.00[ASN][1000 genomes]
rs211472	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs213198	1.00[ASN][1000 genomes]
rs2747476	0.91[EUR][1000 genomes]
rs2941555	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106196	1.00[ASN][1000 genomes]
rs3116713	1.00[ASN][1000 genomes]
rs3119026	1.00[ASN][1000 genomes]
rs3130012	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130023	1.00[ASN][1000 genomes]
rs3130026	1.00[ASN][1000 genomes]
rs3130104	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130257	1.00[ASN][1000 genomes]
rs3130258	1.00[ASN][1000 genomes]
rs3130273	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35700288	1.00[ASN][1000 genomes]
rs36003672	1.00[ASN][1000 genomes]
rs395832	0.86[EUR][1000 genomes]
rs406009	0.94[EUR][1000 genomes]
rs449978	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4713634	1.00[ASN][1000 genomes]
rs6910721	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7762843	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	nsv969386	chr6:33297665-33325116	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33291800-33317400	Weak transcription	Right Atrium	heart
2	chr6:33311200-33314000	Enhancers	Fetal Thymus	thymus
3	chr6:33311600-33313600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:33312400-33313600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:33312400-33313800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:33312600-33313600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:33312600-33313600	Flanking Active TSS	Dnd41	blood
8	chr6:33312600-33313600	Enhancers	Osteobl	bone
9	chr6:33312600-33314000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:33312600-33317800	Enhancers	Stomach Mucosa	stomach
11	chr6:33312800-33313600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:33312800-33313600	Enhancers	Adipose Nuclei	Adipose
13	chr6:33312800-33313800	Weak transcription	Lung	lung
14	chr6:33313000-33313600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:33313000-33313600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:33313000-33313600	Enhancers	Fetal Muscle Leg	muscle
17	chr6:33313000-33313600	Enhancers	HSMM	muscle
18	chr6:33313000-33313800	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:33313000-33314000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:33313200-33313600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:33313200-33313600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:33313200-33313600	Enhancers	Primary B cells from cord blood	blood
23	chr6:33313200-33313600	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:33313200-33313600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:33313200-33313600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:33313200-33313600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:33313200-33313600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr6:33313200-33313600	Enhancers	GM12878-XiMat	blood
29	chr6:33313200-33313800	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:33313200-33313800	Enhancers	Primary T cells from cord blood	blood
31	chr6:33313200-33313800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:33313200-33313800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:33313200-33313800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr6:33313200-33313800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:33313200-33313800	Enhancers	Duodenum Mucosa	Duodenum
36	chr6:33313200-33314000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr6:33313200-33314000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr6:33313200-33316800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:33313400-33313600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:33313400-33313800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr6:33313400-33314000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr6:33313400-33314200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:33313400-33314400	Weak transcription	Hela-S3	cervix
44	chr6:33313400-33314800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:33313400-33314800	Weak transcription	NHEK	skin
46	chr6:33313400-33315600	Weak transcription	K562	blood
47	chr6:33313400-33317600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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