Variant report

Variant	rs57127503
Chromosome Location	chr6:56537781-56537782
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	chr6:56536021..56540007-chr6:56541173..56545596,4	K562	blood:
2	chr6:56535123..56537866-chr6:56554714..56556544,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10484789	1.00[AMR][1000 genomes]
rs16888085	1.00[AMR][1000 genomes]
rs58623924	1.00[AMR][1000 genomes]
rs59453953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59646136	1.00[AMR][1000 genomes]
rs61368349	1.00[AMR][1000 genomes]
rs73747827	1.00[AMR][1000 genomes]
rs73747831	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv432888	chr6:56507489-56560764	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56526400-56540400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:56526400-56549200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:56527000-56554400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:56529600-56553800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:56532600-56547200	Weak transcription	HepG2	liver
6	chr6:56535200-56539000	Enhancers	Liver	Liver
7	chr6:56535200-56555200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:56535600-56538600	Weak transcription	Osteobl	bone
9	chr6:56535600-56548600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:56535600-56549200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:56536000-56537800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:56536200-56537800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:56536200-56538000	Enhancers	Fetal Thymus	thymus
14	chr6:56536400-56537800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:56536400-56537800	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:56536400-56538000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:56536800-56538000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:56536800-56539000	Enhancers	Brain Anterior Caudate	brain
19	chr6:56537000-56539200	Enhancers	Fetal Intestine Large	intestine
20	chr6:56537000-56539400	Enhancers	Fetal Intestine Small	intestine
21	chr6:56537000-56539800	Enhancers	Brain Hippocampus Middle	brain
22	chr6:56537000-56542000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:56537000-56551800	Weak transcription	Esophagus	oesophagus
24	chr6:56537200-56537800	Enhancers	Brain Angular Gyrus	brain
25	chr6:56537200-56538000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:56537200-56538000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:56537200-56538400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:56537200-56538400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:56537200-56538400	Enhancers	Brain Cingulate Gyrus	brain
30	chr6:56537200-56538400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:56537200-56539000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr6:56537200-56540400	Enhancers	Brain Substantia Nigra	brain
33	chr6:56537200-56542000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:56537200-56542000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:56537200-56542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:56537200-56542000	Weak transcription	Psoas Muscle	Psoas
37	chr6:56537200-56542000	Weak transcription	Right Ventricle	heart
38	chr6:56537200-56542000	Weak transcription	HMEC	breast
39	chr6:56537200-56542000	Weak transcription	NHDF-Ad	bronchial
40	chr6:56537200-56542200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:56537200-56542200	Weak transcription	Aorta	Aorta
42	chr6:56537200-56542200	Weak transcription	A549	lung
43	chr6:56537200-56542200	Weak transcription	NHEK	skin
44	chr6:56537200-56542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:56537200-56542400	Weak transcription	NH-A	brain
46	chr6:56537200-56542600	Weak transcription	Lung	lung
47	chr6:56537200-56542600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:56537200-56545200	Weak transcription	Ovary	ovary
49	chr6:56537200-56545400	Weak transcription	Gastric	stomach
50	chr6:56537200-56547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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