Variant report

Variant	rs527847913
Chromosome Location	chr2:73838565-73838566
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	chr2:73837883..73840443-chr2:74211046..74212867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv874268	chr2:73837751-73907696	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874269	chr2:73837751-73914019	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv874270	chr2:73837751-73916672	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv10013	chr2:73838181-73841175	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
2	chr2:73822000-73838800	Weak transcription	Fetal Heart	heart
3	chr2:73822600-73840800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:73823000-73844600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:73826000-73841200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:73826200-73841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:73826600-73839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:73826800-73838800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:73827000-73840600	Weak transcription	NHLF	lung
10	chr2:73827600-73839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:73827800-73840400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:73829000-73839000	Weak transcription	NHDF-Ad	bronchial
13	chr2:73829000-73839400	Weak transcription	Placenta	Placenta
14	chr2:73829200-73838600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:73829200-73840000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:73829400-73845400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:73829600-73840200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:73829800-73839600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:73829800-73840000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:73829800-73840000	Weak transcription	Gastric	stomach
21	chr2:73829800-73840400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:73830000-73840800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:73830400-73839200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:73830400-73843600	Weak transcription	Aorta	Aorta
25	chr2:73830600-73838800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:73830600-73839000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:73830600-73839000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:73830600-73839600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:73830600-73840000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:73830600-73841200	Weak transcription	Liver	Liver
31	chr2:73830600-73843000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:73830600-73847600	Weak transcription	Spleen	Spleen
33	chr2:73830600-73854800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:73830800-73839200	Weak transcription	Osteobl	bone
35	chr2:73830800-73840800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:73831000-73842200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:73831200-73839600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:73831200-73841200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:73833800-73839200	Strong transcription	Fetal Brain Female	brain
40	chr2:73835200-73838600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:73835400-73838800	Strong transcription	Fetal Intestine Small	intestine
42	chr2:73835400-73839000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:73835400-73839200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:73835600-73838800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:73835600-73838800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:73835600-73838800	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:73835800-73838800	Strong transcription	Brain Germinal Matrix	brain
48	chr2:73836000-73838800	Strong transcription	Fetal Stomach	stomach
49	chr2:73836200-73839200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:73836200-73839800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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