Variant report

Variant	rs680638
Chromosome Location	chr1:186156514-186156515
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	chr1:186146345..186149254-chr1:186156186..186157868,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224691	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12039709	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs625988	0.81[EUR][1000 genomes]
rs671388	0.83[ASN][1000 genomes]
rs671496	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs676236	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs857753	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]

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	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

No data

Chromatin state (count:41 , 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	chr1:186136800-186157000	Weak transcription	Aorta	Aorta
5	chr1:186145000-186158400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:186148000-186157000	Weak transcription	Left Ventricle	heart
7	chr1:186151200-186156800	Enhancers	NHEK	skin
8	chr1:186153000-186156800	Weak transcription	Esophagus	oesophagus
9	chr1:186153000-186156800	Weak transcription	Lung	lung
10	chr1:186153000-186160600	Weak transcription	Spleen	Spleen
11	chr1:186153200-186156800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:186153400-186156800	Weak transcription	Hela-S3	cervix
13	chr1:186153400-186157000	Weak transcription	Thymus	Thymus
14	chr1:186153400-186157200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:186153600-186156800	Weak transcription	Fetal Lung	lung
16	chr1:186153600-186156800	Weak transcription	K562	blood
17	chr1:186153600-186157000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:186153800-186156800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:186153800-186156800	Weak transcription	Liver	Liver
20	chr1:186153800-186157000	Weak transcription	Adipose Nuclei	Adipose
21	chr1:186153800-186157000	Enhancers	NHDF-Ad	bronchial
22	chr1:186154200-186156800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:186154200-186156800	Weak transcription	HSMMtube	muscle
24	chr1:186155400-186157600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:186155400-186159200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:186155600-186156800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:186155600-186156800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:186155600-186156800	Enhancers	Osteobl	bone
29	chr1:186155600-186157200	Enhancers	NHLF	lung
30	chr1:186155800-186157000	Enhancers	HSMM	muscle
31	chr1:186156000-186157000	Enhancers	NH-A	brain
32	chr1:186156000-186158400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:186156200-186156600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:186156200-186157000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:186156400-186156800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:186156400-186156800	Enhancers	A549	lung
37	chr1:186156400-186158000	Flanking Active TSS	HMEC	breast
38	chr1:186156400-186158600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:186156400-186158800	Weak transcription	Pancreas	Pancrea
40	chr1:186156400-186159000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:186156400-186159000	Enhancers	HUVEC	blood vessel

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