Variant report

Variant	rs528823780
Chromosome Location	chr4:55132212-55132213
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	chr4:55130972..55133707-chr4:55137155..55139847,2	MCF-7	breast:

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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv997422	chr4:55104743-55132489	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1004408	chr4:55124471-55179212	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv537099	chr4:55124471-55179212	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1001094	chr4:55131860-55189739	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55119000-55138600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:55119400-55148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:55121000-55147600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:55121000-55153200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:55121200-55133400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:55121200-55147200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:55122400-55133400	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:55122400-55142600	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:55124400-55140400	Weak transcription	Placenta	Placenta
10	chr4:55124400-55147800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:55124800-55134000	Weak transcription	Fetal Brain Male	brain
12	chr4:55124800-55138600	Weak transcription	NH-A	brain
13	chr4:55125400-55140600	Strong transcription	Ovary	ovary
14	chr4:55125800-55135800	Strong transcription	Fetal Lung	lung
15	chr4:55126000-55132600	Strong transcription	NHLF	lung
16	chr4:55126000-55133400	Strong transcription	Osteobl	bone
17	chr4:55126400-55140800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:55126600-55134400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:55127000-55138600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:55127200-55133400	Weak transcription	Fetal Intestine Large	intestine
21	chr4:55127200-55135600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:55127800-55140600	Weak transcription	Left Ventricle	heart
23	chr4:55129200-55139000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:55129200-55142400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:55129600-55132600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:55129800-55136000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:55130000-55135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:55130000-55139000	Weak transcription	Esophagus	oesophagus
29	chr4:55130000-55139000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:55130200-55142800	Weak transcription	Gastric	stomach
31	chr4:55130200-55143000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:55130400-55134200	Strong transcription	Fetal Kidney	kidney
33	chr4:55130600-55142400	Weak transcription	Right Ventricle	heart
34	chr4:55131400-55132400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:55131600-55148000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:55131800-55133200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:55131800-55134200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:55131800-55137200	Weak transcription	Spleen	Spleen
39	chr4:55132000-55133400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:55132000-55133400	Weak transcription	Fetal Stomach	stomach
41	chr4:55132000-55133400	Strong transcription	NHDF-Ad	bronchial
42	chr4:55132000-55133600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:55132000-55134200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:55132200-55133000	Weak transcription	Aorta	Aorta
45	chr4:55132200-55142200	Weak transcription	Liver	Liver

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