Variant report

Variant	rs147743402
Chromosome Location	chr2:33548054-33548055
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33546250..33548887-chr2:33557480..33559960,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252246	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	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
2	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
3	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
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv963908	chr2:33547438-33552765	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
3	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
4	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
5	chr2:33542000-33572200	Weak transcription	Liver	Liver
6	chr2:33544800-33548400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:33545200-33549600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:33545400-33548400	Enhancers	Fetal Stomach	stomach
9	chr2:33545400-33551800	Weak transcription	Right Atrium	heart
10	chr2:33545600-33548200	Enhancers	NHLF	lung
11	chr2:33545800-33548200	Enhancers	Colon Smooth Muscle	Colon
12	chr2:33545800-33548200	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:33545800-33548400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:33545800-33549200	Enhancers	Dnd41	blood
15	chr2:33546200-33548400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:33546600-33548200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:33546800-33549800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:33547000-33549000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr2:33547200-33548200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:33547200-33567200	Weak transcription	NH-A	brain
21	chr2:33547400-33548200	Enhancers	Fetal Brain Male	brain
22	chr2:33547400-33548400	Weak transcription	Left Ventricle	heart
23	chr2:33547400-33548400	Weak transcription	Ovary	ovary
24	chr2:33547400-33548800	Weak transcription	Aorta	Aorta
25	chr2:33547400-33549200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:33547600-33548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:33547600-33548400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:33547600-33550000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:33547600-33560800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:33547600-33567200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:33547600-33579800	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:33547800-33549200	Genic enhancers	Fetal Heart	heart
33	chr2:33547800-33581000	Weak transcription	Fetal Lung	lung
34	chr2:33548000-33548200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:33548000-33548200	Enhancers	NHDF-Ad	bronchial
36	chr2:33548000-33549200	Strong transcription	Osteobl	bone
37	chr2:33548000-33559000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:33548000-33559000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:33548000-33567200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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