Variant report

Variant	rs186595192
Chromosome Location	chr4:148659173-148659174
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148652497..148654668-chr4:148658383..148660519,2	MCF-7	breast:
2	chr4:148655205..148657346-chr4:148658350..148660032,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148655400-148662600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:148655400-148662600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:148655600-148662600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr4:148655600-148662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:148655800-148660200	Weak transcription	Placenta	Placenta
7	chr4:148655800-148663400	Enhancers	Fetal Heart	heart
8	chr4:148655800-148665600	Weak transcription	Lung	lung
9	chr4:148656000-148659200	Enhancers	Adipose Nuclei	Adipose
10	chr4:148656000-148659400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:148656000-148660000	Enhancers	Colon Smooth Muscle	Colon
12	chr4:148656000-148662400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:148656600-148661800	Weak transcription	Fetal Lung	lung
14	chr4:148656600-148676800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:148656800-148659200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:148656800-148659200	Enhancers	Psoas Muscle	Psoas
17	chr4:148656800-148660200	Enhancers	Left Ventricle	heart
18	chr4:148656800-148662800	Weak transcription	Small Intestine	intestine
19	chr4:148656800-148675200	Weak transcription	Fetal Stomach	stomach
20	chr4:148657000-148663000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:148657000-148668600	Weak transcription	Gastric	stomach
22	chr4:148657400-148659200	Enhancers	Right Ventricle	heart
23	chr4:148657400-148662800	Weak transcription	Esophagus	oesophagus
24	chr4:148657400-148668600	Weak transcription	Fetal Intestine Small	intestine
25	chr4:148657600-148659200	Enhancers	HSMMtube	muscle
26	chr4:148657600-148659200	Enhancers	NH-A	brain
27	chr4:148657600-148659200	Enhancers	NHLF	lung
28	chr4:148657800-148659600	Enhancers	Ovary	ovary
29	chr4:148657800-148662600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr4:148658000-148659200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:148658000-148659400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:148658000-148659800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:148658000-148660000	Weak transcription	Fetal Intestine Large	intestine
34	chr4:148658000-148662200	Weak transcription	A549	lung
35	chr4:148658200-148659200	Enhancers	GM12878-XiMat	blood
36	chr4:148658200-148659400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:148658200-148660400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:148658200-148660400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:148658200-148660400	Weak transcription	HSMM	muscle
40	chr4:148658200-148660600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:148658200-148660600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:148658200-148660600	Weak transcription	NHDF-Ad	bronchial
43	chr4:148658200-148660600	Weak transcription	Osteobl	bone
44	chr4:148658200-148660800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr4:148658200-148661200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:148658200-148661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:148658200-148661400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:148658200-148661600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:148658200-148661800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:148658200-148662400	Weak transcription	HMEC	breast

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