Variant report

Variant	rs547148588
Chromosome Location	chr2:33490572-33490573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:41463791..41467360-chr2:33489830..33492830,6	K562	blood:
2	chr2:33489408..33492344-chr2:33493804..33495896,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188825	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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
4	chr2:33468200-33491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:33471800-33491200	Weak transcription	Pancreas	Pancrea
6	chr2:33472000-33491200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
8	chr2:33472400-33491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:33472600-33492800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:33474000-33491000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:33474200-33491200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:33476200-33491000	Weak transcription	Gastric	stomach
13	chr2:33477400-33491000	Weak transcription	Fetal Stomach	stomach
14	chr2:33478000-33491000	Weak transcription	Lung	lung
15	chr2:33478800-33491200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:33483800-33491000	Weak transcription	Left Ventricle	heart
17	chr2:33486600-33491200	Weak transcription	K562	blood
18	chr2:33486600-33493400	Weak transcription	Fetal Kidney	kidney
19	chr2:33487000-33491000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:33487200-33491200	Weak transcription	Brain Angular Gyrus	brain
22	chr2:33487200-33492200	Weak transcription	Right Atrium	heart
23	chr2:33487400-33491000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:33487600-33491000	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:33487600-33491000	Weak transcription	NHDF-Ad	bronchial
26	chr2:33487800-33492000	Strong transcription	Osteobl	bone
27	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
28	chr2:33488000-33491000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:33488000-33491400	Strong transcription	HUVEC	blood vessel
30	chr2:33488200-33490600	Strong transcription	Ovary	ovary
31	chr2:33488200-33492400	Strong transcription	Liver	Liver
32	chr2:33488600-33491000	Weak transcription	NHLF	lung
33	chr2:33488800-33491000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:33489600-33491200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:33489600-33491200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:33489600-33491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:33489800-33490600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:33489800-33490600	Genic enhancers	A549	lung
39	chr2:33489800-33491000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:33489800-33491200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:33489800-33491200	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr2:33489800-33491200	Strong transcription	Placenta	Placenta
43	chr2:33489800-33491600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:33489800-33492600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr2:33489800-33493000	Strong transcription	Aorta	Aorta
46	chr2:33490000-33490600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:33490000-33491200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:33490000-33491200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:33490000-33491200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:33490000-33491400	Strong transcription	Fetal Lung	lung

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