Variant report

Variant	rs6928120
Chromosome Location	chr6:20214657-20214658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:20214474..20216698-chr6:20404358..20407296,3	K562	blood:
2	chr6:20159507..20162340-chr6:20213634..20216190,2	MCF-7	breast:
3	chr6:20213363..20215491-chr6:20226675..20228588,2	MCF-7	breast:
4	chr6:20212989..20214883-chr6:20456758..20459141,2	K562	blood:
5	chr6:20208632..20214725-chr6:20400593..20405219,15	K562	blood:
6	chr6:20213974..20215520-chr9:92218381..92220552,2	MCF-7	breast:
7	chr6:20208057..20215931-chr6:20401288..20405953,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130222	Chromatin interaction
ENSG00000112242	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1077919	0.92[ASN][1000 genomes]
rs1077920	0.92[ASN][1000 genomes]
rs1536580	0.92[ASN][1000 genomes]
rs1536581	0.92[ASN][1000 genomes]
rs9350222	0.92[ASN][1000 genomes]
rs9350223	0.92[ASN][1000 genomes]
rs9358312	0.83[AMR][1000 genomes];0.88[ASN][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	nsv1029729	chr6:20113226-20235122	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538155	chr6:20113226-20235122	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1027355	chr6:20207893-20261048	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1027220	chr6:20213667-20258103	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20213400-20217600	Weak transcription	Lung	lung
2	chr6:20213600-20217600	Weak transcription	Brain Anterior Caudate	brain
3	chr6:20213800-20214800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:20213800-20217600	Weak transcription	Ovary	ovary
5	chr6:20213800-20217600	Weak transcription	Right Ventricle	heart
6	chr6:20214000-20216600	Weak transcription	Left Ventricle	heart
7	chr6:20214000-20216600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:20214000-20216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:20214000-20216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:20214000-20217000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:20214000-20217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:20214000-20217000	Weak transcription	NHLF	lung
13	chr6:20214000-20217200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:20214000-20217200	Weak transcription	Right Atrium	heart
15	chr6:20214000-20217400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:20214000-20217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:20214000-20217600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:20214000-20217600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:20214000-20217600	Weak transcription	Brain Substantia Nigra	brain
20	chr6:20214000-20217600	Enhancers	Fetal Heart	heart
21	chr6:20214000-20217800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:20214000-20217800	Weak transcription	Pancreas	Pancrea
23	chr6:20214200-20215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:20214200-20215000	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:20214200-20215200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:20214200-20215200	Weak transcription	Hela-S3	cervix
27	chr6:20214200-20216600	Weak transcription	Fetal Intestine Large	intestine
28	chr6:20214200-20216600	Weak transcription	K562	blood
29	chr6:20214200-20216800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:20214200-20216800	Weak transcription	Fetal Intestine Small	intestine
31	chr6:20214200-20216800	Weak transcription	NHDF-Ad	bronchial
32	chr6:20214200-20217000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:20214200-20217000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:20214200-20217000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:20214200-20217000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:20214200-20217000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:20214200-20217000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:20214200-20217000	Weak transcription	Stomach Mucosa	stomach
39	chr6:20214200-20217000	Weak transcription	NHEK	skin
40	chr6:20214200-20217600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:20214200-20217600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:20214200-20217600	Weak transcription	Adipose Nuclei	Adipose
43	chr6:20214200-20217600	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:20214200-20217600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:20214200-20217600	Weak transcription	HMEC	breast
46	chr6:20214200-20217800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:20214200-20217800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:20214200-20218000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:20214200-20221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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