Variant report

Variant	rs548271249
Chromosome Location	chr5:60573867-60573868
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60560892..60563443-chr5:60571695..60574490,2	MCF-7	breast:
2	chr5:60458169..60460018-chr5:60573555..60575664,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription 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	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv823088	chr5:60572580-60577406	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv441955	chr5:60573147-60576860	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60564600-60575400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:60564600-60576000	Weak transcription	Psoas Muscle	Psoas
3	chr5:60567800-60577200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:60569000-60574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:60569200-60574600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:60569400-60574000	Enhancers	Primary B cells from cord blood	blood
7	chr5:60570800-60574400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:60571000-60574400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:60571000-60574400	Enhancers	NHEK	skin
10	chr5:60571200-60574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:60571200-60576600	Weak transcription	Pancreas	Pancrea
12	chr5:60571600-60574600	Weak transcription	Small Intestine	intestine
13	chr5:60571800-60574600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:60571800-60583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:60572000-60574000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:60572000-60577000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:60572000-60582400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:60572600-60574000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:60572800-60574000	Enhancers	Fetal Thymus	thymus
20	chr5:60572800-60574200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:60573000-60574000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr5:60573000-60574600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:60573200-60574000	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:60573200-60574000	Enhancers	Dnd41	blood
25	chr5:60573400-60574400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:60573400-60574400	Weak transcription	Placenta	Placenta
27	chr5:60573400-60575600	Weak transcription	HSMM	muscle
28	chr5:60573400-60575800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:60573400-60575800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:60573400-60575800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:60573400-60586600	Weak transcription	Esophagus	oesophagus
32	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
33	chr5:60573600-60574000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:60573600-60574000	Enhancers	Brain Hippocampus Middle	brain
35	chr5:60573600-60574400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:60573600-60574400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:60573600-60574400	Enhancers	Lung	lung
38	chr5:60573600-60574600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:60573600-60574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:60573600-60575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:60573600-60575600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:60573600-60575600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:60573600-60575600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:60573600-60575600	Weak transcription	NH-A	brain
45	chr5:60573600-60575600	Weak transcription	Osteobl	bone
46	chr5:60573600-60575800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:60573600-60575800	Weak transcription	HSMMtube	muscle
48	chr5:60573600-60576000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:60573600-60576000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:60573600-60576000	Weak transcription	Colon Smooth Muscle	Colon

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