Variant report

Variant	rs549991327
Chromosome Location	chr1:225998958-225998959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225993855..225996522-chr1:225998184..225999868,2	MCF-7	breast:
2	chr1:225998808..226002827-chr1:226008223..226011228,3	MCF-7	breast:
3	chr1:225975459..225978007-chr1:225998232..226000787,2	K562	blood:
4	chr1:225962862..225967352-chr1:225996084..226002774,11	MCF-7	breast:
5	chr1:225998663..226000298-chr1:226028489..226031143,2	MCF-7	breast:
6	chr1:225969259..225971858-chr1:225998628..226000469,2	K562	blood:
7	chr1:225998339..226001333-chr1:226013491..226015022,2	K562	blood:
8	chr1:225997762..225999546-chr1:226064729..226066981,2	MCF-7	breast:
9	chr1:225962294..225967531-chr1:225994011..226002080,11	K562	blood:
10	chr1:225997801..225999336-chr5:38846074..38848337,2	MCF-7	breast:
11	chr1:225963904..225970275-chr1:225994893..226001084,15	K562	blood:
12	chr1:225993353..225995844-chr1:225998707..226001448,2	K562	blood:
13	chr1:225963814..225970754-chr1:225996230..226002908,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143742	Chromatin interaction
ENSG00000145623	Chromatin interaction
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225997200-225999000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:225997200-225999000	Active TSS	Brain Hippocampus Middle	brain
3	chr1:225997200-225999200	Active TSS	Brain Angular Gyrus	brain
4	chr1:225997200-225999200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr1:225997200-225999200	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:225997200-225999600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:225997400-225999000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:225997400-225999000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:225997400-225999000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:225997400-225999000	Active TSS	Aorta	Aorta
11	chr1:225997400-225999000	Active TSS	Esophagus	oesophagus
12	chr1:225997400-225999000	Active TSS	Right Atrium	heart
13	chr1:225997400-225999000	Active TSS	Right Ventricle	heart
14	chr1:225997400-225999000	Active TSS	NHDF-Ad	bronchial
15	chr1:225997400-225999200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:225997400-225999200	Active TSS	Fetal Brain Female	brain
17	chr1:225997400-225999200	Enhancers	Fetal Heart	heart
18	chr1:225997400-225999200	Active TSS	Fetal Kidney	kidney
19	chr1:225997400-225999400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr1:225997400-225999800	Active TSS	Ovary	ovary
21	chr1:225997400-226000000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:225997600-225999000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:225997600-225999000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:225997600-225999000	Active TSS	Pancreas	Pancrea
25	chr1:225997600-225999000	Active TSS	HepG2	liver
26	chr1:225997800-225999000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:225997800-225999600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:225998000-225999600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:225998200-225999000	Flanking Active TSS	Placenta	Placenta
30	chr1:225998400-225999000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:225998400-225999000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr1:225998400-225999000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr1:225998400-225999000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:225998400-225999000	Flanking Active TSS	Fetal Brain Male	brain
35	chr1:225998400-225999000	Enhancers	Dnd41	blood
36	chr1:225998400-225999000	Enhancers	GM12878-XiMat	blood
37	chr1:225998400-225999200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:225998400-225999200	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr1:225998400-225999600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:225998400-225999600	Weak transcription	HSMMtube	muscle
41	chr1:225998400-226000000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:225998400-226001000	Enhancers	K562	blood
43	chr1:225998400-226001600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:225998400-226007800	Enhancers	Spleen	Spleen
45	chr1:225998600-225999000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:225998600-225999000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:225998600-225999000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:225998600-225999000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:225998600-225999000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:225998600-225999000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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