Variant report

Variant	rs548994698
Chromosome Location	chr3:47223686-47223687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47205606..47207421-chr3:47222256..47224382,2	K562	blood:

Variant related genes	Relation type
ENSG00000227398	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590211	chr3:47189485-47256057	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv3801	chr3:47201530-47246438	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47206800-47228000	Weak transcription	Spleen	Spleen
2	chr3:47207000-47224400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
4	chr3:47207200-47225800	Weak transcription	Placenta	Placenta
5	chr3:47207200-47235800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:47207400-47224400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:47207800-47224200	Weak transcription	NH-A	brain
8	chr3:47207800-47224800	Weak transcription	Adipose Nuclei	Adipose
9	chr3:47207800-47228000	Weak transcription	HMEC	breast
10	chr3:47208000-47223800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:47208000-47227800	Weak transcription	K562	blood
12	chr3:47208000-47230600	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:47208000-47249600	Weak transcription	Ovary	ovary
14	chr3:47208200-47223800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:47208200-47224200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:47208200-47224600	Weak transcription	Brain Germinal Matrix	brain
17	chr3:47208200-47225200	Weak transcription	Fetal Intestine Small	intestine
18	chr3:47208200-47225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:47208200-47229400	Weak transcription	NHLF	lung
20	chr3:47208200-47232600	Weak transcription	Fetal Brain Female	brain
21	chr3:47208200-47256400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:47208200-47276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:47208400-47223800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:47208400-47224800	Weak transcription	HepG2	liver
25	chr3:47208400-47225800	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:47208600-47224200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:47217800-47223800	Weak transcription	Primary B cells from cord blood	blood
28	chr3:47217800-47236600	Weak transcription	Right Ventricle	heart
29	chr3:47218200-47226400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:47219400-47243400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:47220800-47223800	Strong transcription	Fetal Muscle Leg	muscle
32	chr3:47220800-47223800	Strong transcription	Fetal Stomach	stomach
33	chr3:47221000-47223800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr3:47221000-47224200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:47221000-47250200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:47221400-47236000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:47222200-47223800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:47222400-47228600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:47222600-47224200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:47222600-47224200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:47222600-47224200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:47222600-47224200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:47222600-47224200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr3:47222600-47224400	Weak transcription	Primary T cells from cord blood	blood
45	chr3:47222600-47224600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:47222600-47225000	Weak transcription	Fetal Lung	lung
47	chr3:47222600-47228600	Weak transcription	HSMM	muscle
48	chr3:47222600-47244200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:47222800-47224400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:47222800-47224400	Weak transcription	Primary monocytes fromperipheralblood	blood

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