Variant report

Variant	rs1570915
Chromosome Location	chr6:53851816-53851817
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53850945..53851819-chr6:54131033..54131552,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1041146	0.84[AFR][1000 genomes]
rs1325823	0.81[AFR][1000 genomes]
rs1325824	0.84[AFR][1000 genomes]
rs1359559	0.84[AFR][1000 genomes]
rs1570914	0.84[AFR][1000 genomes]
rs1581820	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2182275	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60862993	1.00[AMR][1000 genomes]
rs727385	0.84[AFR][1000 genomes]
rs72948191	1.00[AMR][1000 genomes]
rs7754712	0.84[AFR][1000 genomes]
rs9382266	0.84[AFR][1000 genomes]
rs9464010	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474693	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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53846400-53852000	Enhancers	HMEC	breast
2	chr6:53846400-53852200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:53847600-53852200	Enhancers	NH-A	brain
4	chr6:53849200-53852200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:53849200-53852600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:53849800-53852000	Enhancers	Osteobl	bone
7	chr6:53849800-53852200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:53849800-53852200	Enhancers	NHEK	skin
9	chr6:53849800-53853200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:53850200-53852200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:53850200-53852600	Enhancers	Fetal Lung	lung
12	chr6:53850400-53852200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:53850600-53853600	Enhancers	Fetal Brain Male	brain
14	chr6:53850800-53852600	Enhancers	Fetal Stomach	stomach
15	chr6:53851000-53852200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:53851000-53852200	Enhancers	HSMM	muscle
17	chr6:53851200-53852000	Enhancers	Fetal Intestine Large	intestine
18	chr6:53851200-53852000	Enhancers	Fetal Intestine Small	intestine
19	chr6:53851200-53852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:53851200-53852200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:53851200-53852200	Enhancers	Liver	Liver
22	chr6:53851200-53852200	Enhancers	HSMMtube	muscle
23	chr6:53851200-53852400	Enhancers	Fetal Heart	heart
24	chr6:53851200-53852600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr6:53851400-53852000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:53851400-53852200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:53851400-53852200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:53851400-53852200	Enhancers	Fetal Kidney	kidney
29	chr6:53851400-53852200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr6:53851400-53852600	Enhancers	Brain Germinal Matrix	brain
31	chr6:53851400-53852800	Enhancers	Rectal Smooth Muscle	rectum
32	chr6:53851400-53853400	Enhancers	Fetal Muscle Leg	muscle
33	chr6:53851600-53852000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:53851600-53852000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:53851600-53852000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:53851600-53852000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:53851600-53852000	Enhancers	Brain Angular Gyrus	brain
38	chr6:53851600-53852000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr6:53851600-53852000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:53851600-53852000	Active TSS	Colon Smooth Muscle	Colon
41	chr6:53851600-53852000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr6:53851600-53852000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr6:53851600-53852200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:53851600-53852200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:53851600-53852200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:53851600-53852200	Enhancers	Adipose Nuclei	Adipose
47	chr6:53851600-53852200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
48	chr6:53851600-53852200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr6:53851600-53852200	Enhancers	Fetal Brain Female	brain
50	chr6:53851600-53852200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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