Variant report

Variant	rs41309296
Chromosome Location	chr6:74508543-74508544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74502515..74505275-chr6:74506661..74508653,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs3764240	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55959929	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56008556	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72955210	0.85[AMR][1000 genomes]
rs72955215	0.85[AMR][1000 genomes]
rs72955217	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72955220	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72955226	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72955229	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72957314	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957315	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957325	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961242	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
2	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS 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	172 gene(s)	inside rSNPs	diseases
4	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers 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	172 gene(s)	inside rSNPs	diseases
5	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
2	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
3	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
5	chr6:74477400-74543400	Weak transcription	Lung	lung
6	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
7	chr6:74484800-74512600	Weak transcription	HSMM	muscle
8	chr6:74487000-74509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:74489800-74510000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
11	chr6:74492400-74510800	Weak transcription	A549	lung
12	chr6:74494400-74510800	Weak transcription	Fetal Lung	lung
13	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
15	chr6:74496800-74528800	Weak transcription	Dnd41	blood
16	chr6:74499000-74527000	Weak transcription	Fetal Thymus	thymus
17	chr6:74499000-74532600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:74499200-74520200	Weak transcription	NHEK	skin
19	chr6:74500600-74525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:74500600-74527600	Weak transcription	Primary T cells from cord blood	blood
21	chr6:74501200-74514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:74501200-74521600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:74503200-74520600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:74503400-74520400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:74503400-74521600	Weak transcription	Left Ventricle	heart
26	chr6:74503400-74530600	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:74503600-74520800	Weak transcription	Adipose Nuclei	Adipose
28	chr6:74503800-74526600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:74505800-74509200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:74506000-74510000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:74506200-74513600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:74506400-74509200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:74506600-74509200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:74506600-74510800	Weak transcription	HUVEC	blood vessel
35	chr6:74506800-74508800	Enhancers	NHDF-Ad	bronchial
36	chr6:74507200-74508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:74507400-74508800	Enhancers	Osteobl	bone
38	chr6:74507800-74508800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:74507800-74508800	Enhancers	Brain Angular Gyrus	brain
40	chr6:74507800-74510400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:74508000-74508600	Enhancers	Placenta	Placenta
42	chr6:74508000-74508800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:74508000-74508800	Enhancers	Brain Anterior Caudate	brain
44	chr6:74508000-74508800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr6:74508000-74508800	Enhancers	NH-A	brain
46	chr6:74508000-74509000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:74508000-74509000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr6:74508200-74508600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:74508200-74508600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr6:74508200-74508600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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