Variant report

Variant	rs11757629
Chromosome Location	chr6:30744529-30744530
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30742016..30748001-chr6:30748066..30750476,5	MCF-7	breast:
2	chr6:30648927..30651629-chr6:30742930..30745365,2	K562	blood:
3	chr6:30742999..30744721-chr6:30782116..30783840,2	MCF-7	breast:
4	chr6:30744501..30746062-chr6:30781081..30782628,2	K562	blood:
5	chr6:30725912..30728357-chr6:30744418..30747133,2	K562	blood:

Variant related genes	Relation type
ENSG00000228022	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1264352	0.91[ASN][1000 genomes]
rs17189329	0.87[ASN][1000 genomes]
rs2894045	1.00[ASN][1000 genomes]
rs3129986	0.94[ASN][1000 genomes]
rs3131062	0.94[ASN][1000 genomes]
rs3131064	0.94[ASN][1000 genomes]
rs60080450	0.81[ASN][1000 genomes]
rs6926530	1.00[ASN][1000 genomes]
rs9262207	0.97[ASN][1000 genomes]
rs9262211	0.97[ASN][1000 genomes]
rs9262215	0.97[ASN][1000 genomes]
rs9262216	0.97[ASN][1000 genomes]
rs9262217	0.97[ASN][1000 genomes]
rs9262218	0.97[ASN][1000 genomes]
rs9262219	0.94[ASN][1000 genomes]
rs9468824	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
9	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
10	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv884103	chr6:30729487-30755668	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv884104	chr6:30740680-30753146	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11757629	LOC647000	trans	multi-tissue	Pritchard

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30734800-30747400	Weak transcription	Liver	Liver
2	chr6:30737600-30746000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:30737600-30746000	Weak transcription	Fetal Lung	lung
4	chr6:30737600-30746000	Weak transcription	Gastric	stomach
5	chr6:30737600-30746000	Weak transcription	Lung	lung
6	chr6:30737600-30746000	Weak transcription	Pancreas	Pancrea
7	chr6:30737600-30746000	Weak transcription	Right Atrium	heart
8	chr6:30737600-30746000	Weak transcription	Right Ventricle	heart
9	chr6:30737600-30746000	Weak transcription	Spleen	Spleen
10	chr6:30737600-30746200	Weak transcription	Psoas Muscle	Psoas
11	chr6:30737600-30746600	Weak transcription	Aorta	Aorta
12	chr6:30737600-30749200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:30738000-30746000	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:30738000-30746400	Weak transcription	Esophagus	oesophagus
15	chr6:30738200-30745200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr6:30738400-30747000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:30738600-30745800	Weak transcription	NH-A	brain
18	chr6:30738600-30746000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:30738600-30746000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:30738600-30747000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:30738600-30749200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:30738800-30744600	Weak transcription	Fetal Thymus	thymus
23	chr6:30738800-30746200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:30738800-30746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:30739000-30746000	Weak transcription	K562	blood
26	chr6:30740600-30746000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:30741000-30746000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:30741000-30749600	Weak transcription	Thymus	Thymus
29	chr6:30742000-30749000	Enhancers	HepG2	liver
30	chr6:30742200-30744800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:30742200-30746200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:30742400-30746200	Enhancers	Hela-S3	cervix
33	chr6:30742600-30747400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:30742800-30745600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:30742800-30746200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:30743000-30746200	Weak transcription	HSMMtube	muscle
37	chr6:30743200-30745400	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:30743200-30745800	Weak transcription	NHDF-Ad	bronchial
39	chr6:30743200-30746000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:30743200-30746000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:30743200-30746000	Weak transcription	Placenta	Placenta
42	chr6:30743200-30746000	Weak transcription	Left Ventricle	heart
43	chr6:30743200-30746000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:30743200-30746000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:30743200-30746200	Weak transcription	HSMM	muscle
46	chr6:30743200-30747600	Weak transcription	HMEC	breast
47	chr6:30743400-30745000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:30743400-30746000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:30743400-30746000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:30743400-30746000	Weak transcription	NHLF	lung

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