Variant report

Variant	rs547562555
Chromosome Location	chr2:55262546-55262547
allele	-/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55253484..55256107-chr2:55261121..55262893,2	K562	blood:
2	chr2:55261847..55264222-chr2:55276252..55278273,3	MCF-7	breast:
3	chr2:55223597..55226125-chr2:55260747..55262677,2	K562	blood:
4	chr2:55251258..55253325-chr2:55261770..55263673,2	K562	blood:
5	chr2:55257553..55263983-chr2:55266645..55270936,7	K562	blood:
6	chr2:55261058..55265438-chr2:55268460..55270489,4	MCF-7	breast:
7	chr2:55253656..55256107-chr2:55260589..55262893,2	K562	blood:
8	chr2:55257154..55258943-chr2:55260166..55262885,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	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	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2517082	chr2:55261451-55263014	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
2	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
3	chr2:55245600-55265600	Weak transcription	Stomach Mucosa	stomach
4	chr2:55250400-55271000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:55250400-55274000	Weak transcription	Pancreas	Pancrea
6	chr2:55253400-55273000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:55254200-55269800	Weak transcription	Aorta	Aorta
8	chr2:55254200-55270400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:55254400-55262600	Enhancers	Brain Hippocampus Middle	brain
10	chr2:55254800-55265000	Enhancers	Brain Substantia Nigra	brain
11	chr2:55255400-55272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:55255400-55272600	Weak transcription	Fetal Intestine Small	intestine
13	chr2:55256400-55266600	Weak transcription	Left Ventricle	heart
14	chr2:55256400-55270400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:55256600-55264000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:55256600-55265200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:55256800-55264200	Weak transcription	HSMMtube	muscle
18	chr2:55258000-55262800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:55258000-55263000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:55258200-55262800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:55259000-55264400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:55259000-55264600	Weak transcription	HMEC	breast
23	chr2:55259000-55264600	Weak transcription	NHLF	lung
24	chr2:55259000-55265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:55259000-55267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:55259000-55272800	Weak transcription	Small Intestine	intestine
27	chr2:55259200-55264400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:55259200-55272800	Weak transcription	Fetal Heart	heart
29	chr2:55259400-55264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:55259400-55275200	Weak transcription	Esophagus	oesophagus
31	chr2:55259600-55263400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:55259600-55263400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:55259800-55262800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:55260000-55262600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr2:55260000-55262800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:55260000-55264000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:55260000-55264600	Weak transcription	Fetal Brain Male	brain
38	chr2:55260000-55265000	Strong transcription	HSMM	muscle
39	chr2:55260000-55265600	Weak transcription	NHEK	skin
40	chr2:55260200-55262800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:55260400-55262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:55260600-55264400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:55260800-55263200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:55260800-55263200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:55260800-55263400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:55260800-55264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:55260800-55264400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:55260800-55264400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:55260800-55264600	Weak transcription	Gastric	stomach
50	chr2:55260800-55266000	Weak transcription	Adipose Nuclei	Adipose

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