Variant report

Variant	rs528044298
Chromosome Location	chr1:93426268-93426269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93425993..93428373-chr1:93433568..93436256,2	MCF-7	breast:
2	chr1:93426062..93426867-chr1:93459810..93460332,2	MCF-7	breast:
3	chr1:93296297..93299381-chr1:93425183..93428047,4	K562	blood:
4	chr1:93324139..93325155-chr1:93425615..93426899,9	MCF-7	breast:
5	chr1:93425058..93429733-chr1:93431759..93435608,8	K562	blood:
6	chr1:93409434..93411659-chr1:93423338..93426325,2	K562	blood:
7	chr1:93378943..93379622-chr1:93425899..93426864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction
ENSG00000252121	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic 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	51 gene(s)	inside rSNPs	diseases
2	esv3339713	chr1:93425789-93428737	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93425200-93428000	Active TSS	Brain Hippocampus Middle	brain
2	chr1:93425200-93428000	Active TSS	NHDF-Ad	bronchial
3	chr1:93425200-93428200	Active TSS	Liver	Liver
4	chr1:93425200-93428200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:93425200-93428200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:93425200-93428200	Active TSS	Brain Substantia Nigra	brain
7	chr1:93425400-93428200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:93425400-93428200	Active TSS	Brain Angular Gyrus	brain
9	chr1:93425400-93428200	Active TSS	Brain Anterior Caudate	brain
10	chr1:93425600-93426400	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr1:93425600-93426400	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr1:93425600-93426400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr1:93425600-93426400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:93425600-93426400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr1:93425600-93426400	Flanking Active TSS	Fetal Thymus	thymus
16	chr1:93425600-93426400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr1:93425600-93426400	Flanking Active TSS	Dnd41	blood
18	chr1:93425600-93426400	Flanking Active TSS	Hela-S3	cervix
19	chr1:93425600-93426400	Flanking Active TSS	HMEC	breast
20	chr1:93425600-93426600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr1:93425600-93426600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:93425600-93426600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr1:93425600-93426600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr1:93425600-93426600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr1:93425600-93427800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:93425600-93427800	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:93425600-93427800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:93425600-93428000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:93425600-93428000	Active TSS	Fetal Brain Female	brain
30	chr1:93425600-93428000	Active TSS	Pancreas	Pancrea
31	chr1:93425600-93428200	Active TSS	Colonic Mucosa	Colon
32	chr1:93425600-93428200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr1:93425600-93428400	Active TSS	Aorta	Aorta
34	chr1:93425800-93426400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr1:93425800-93426400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:93425800-93426400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr1:93425800-93426600	Flanking Active TSS	Placenta	Placenta
38	chr1:93425800-93426600	Flanking Active TSS	K562	blood
39	chr1:93425800-93426600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:93425800-93426800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:93425800-93427600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:93425800-93427600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:93425800-93427800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:93425800-93427800	Active TSS	Fetal Intestine Small	intestine
45	chr1:93425800-93427800	Active TSS	Rectal Smooth Muscle	rectum
46	chr1:93425800-93427800	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr1:93425800-93427800	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:93425800-93428000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr1:93425800-93428000	Active TSS	Colon Smooth Muscle	Colon
50	chr1:93425800-93428000	Active TSS	Psoas Muscle	Psoas

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