Variant report

Variant	rs74136049
Chromosome Location	chr1:186113330-186113331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186109391..186111607-chr1:186111701..186113475,2	MCF-7	breast:
2	chr1:186111863..186115556-chr1:186121315..186123717,4	K562	blood:
3	chr1:186110179..186113621-chr1:186114137..186116507,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57311690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59391265	0.83[AMR][1000 genomes]
rs61012118	1.00[AFR][1000 genomes]
rs74136003	1.00[AFR][1000 genomes]
rs74136007	1.00[AFR][1000 genomes]
rs74136020	0.83[AMR][1000 genomes]
rs74136022	0.83[AMR][1000 genomes]
rs74136029	0.83[AMR][1000 genomes]
rs74136032	0.83[AMR][1000 genomes]
rs74136040	0.83[AMR][1000 genomes]
rs74136042	1.00[AMR][1000 genomes]
rs74136044	0.83[AMR][1000 genomes]
rs74136050	1.00[AMR][1000 genomes]
rs74136052	1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186052200-186118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:186073000-186121400	Weak transcription	NH-A	brain
4	chr1:186075000-186113600	Weak transcription	Lung	lung
5	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:186100000-186113400	Weak transcription	Aorta	Aorta
7	chr1:186107200-186115000	Weak transcription	Adipose Nuclei	Adipose
8	chr1:186107400-186114600	Weak transcription	Liver	Liver
9	chr1:186107600-186113400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:186108000-186115800	Weak transcription	Fetal Lung	lung
11	chr1:186109000-186121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:186109200-186124600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:186109400-186121200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:186109600-186113600	Weak transcription	Ovary	ovary
15	chr1:186109600-186115800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:186109600-186121200	Weak transcription	Osteobl	bone
17	chr1:186109800-186115200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:186109800-186121400	Weak transcription	NHDF-Ad	bronchial
19	chr1:186109800-186121600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:186110000-186113400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:186110000-186121200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:186112200-186117400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:186112600-186122000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:186113200-186115400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:186113200-186116000	Strong transcription	Left Ventricle	heart
26	chr1:186113200-186117200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:186113200-186117400	Weak transcription	Fetal Stomach	stomach
28	chr1:186113200-186124200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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