Variant report

Variant	rs574247253
Chromosome Location	chr1:186157582-186157583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185975804..185978755-chr1:186156792..186158359,2	MCF-7	breast:
2	chr1:186146345..186149254-chr1:186156186..186157868,2	MCF-7	breast:
3	chr1:186156618..186158956-chr1:186211856..186214828,2	MCF-7	breast:
4	chr1:186152958..186154907-chr1:186156624..186160486,3	K562	blood:

Variant related genes	Relation type
ENSG00000224691	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1007237	chr1:186137724-186226502	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1009149	chr1:186147945-186206188	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1002503	chr1:186156060-186206188	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1003070	chr1:186157240-186202008	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
2	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:186136200-186157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:186145000-186158400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:186153000-186160600	Weak transcription	Spleen	Spleen
6	chr1:186155400-186157600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:186155400-186159200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:186156000-186158400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:186156400-186158000	Flanking Active TSS	HMEC	breast
10	chr1:186156400-186158600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:186156400-186158800	Weak transcription	Pancreas	Pancrea
12	chr1:186156400-186159000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:186156400-186159000	Enhancers	HUVEC	blood vessel
14	chr1:186156600-186157800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:186156800-186157600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:186156800-186157600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:186156800-186157800	Enhancers	K562	blood
18	chr1:186156800-186158000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:186156800-186158000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:186156800-186158000	Flanking Active TSS	A549	lung
21	chr1:186156800-186158000	Enhancers	Hela-S3	cervix
22	chr1:186156800-186158000	Flanking Active TSS	NHEK	skin
23	chr1:186156800-186158000	Flanking Active TSS	Osteobl	bone
24	chr1:186156800-186158800	Enhancers	HSMMtube	muscle
25	chr1:186156800-186159200	Strong transcription	Liver	Liver
26	chr1:186156800-186159200	Strong transcription	Fetal Lung	lung
27	chr1:186157000-186158000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:186157000-186158000	Flanking Active TSS	NHDF-Ad	bronchial
29	chr1:186157000-186158200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:186157000-186159000	Strong transcription	Left Ventricle	heart
31	chr1:186157000-186159200	Strong transcription	Adipose Nuclei	Adipose
32	chr1:186157000-186159400	Strong transcription	Aorta	Aorta
33	chr1:186157200-186157800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:186157200-186157800	Flanking Active TSS	NHLF	lung
35	chr1:186157200-186158800	Weak transcription	Lung	lung
36	chr1:186157400-186157600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:186157400-186157600	Enhancers	NH-A	brain
38	chr1:186157400-186157800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:186157400-186157800	Enhancers	HSMM	muscle
40	chr1:186157400-186158400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:186157400-186159200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:186157400-186160000	Weak transcription	Ovary	ovary
43	chr1:186157400-186161200	Weak transcription	Esophagus	oesophagus
44	chr1:186157400-186163200	Weak transcription	Fetal Brain Male	brain

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