Variant report

Variant	rs59997347
Chromosome Location	chr1:186505216-186505217
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186344658..186346802-chr1:186505094..186507834,3	K562	blood:
2	chr1:186344658..186346288-chr1:186505094..186507834,2	K562	blood:

Variant related genes	Relation type
ENSG00000157181	Chromatin interaction
ENSG00000047410	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2224090	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054377	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186501400-186505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:186501600-186505600	Weak transcription	HSMMtube	muscle
3	chr1:186503600-186507600	Enhancers	NHDF-Ad	bronchial
4	chr1:186503800-186508000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:186504000-186506200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:186504000-186506400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:186504000-186506400	Enhancers	NH-A	brain
8	chr1:186504000-186506800	Enhancers	Osteobl	bone
9	chr1:186504000-186507200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:186504000-186507400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:186504400-186506000	Enhancers	NHEK	skin
12	chr1:186504400-186506600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:186504600-186505600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:186504600-186506000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:186504600-186506000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:186504600-186506200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:186504600-186506200	Enhancers	Hela-S3	cervix
18	chr1:186504600-186506400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:186504600-186506400	Enhancers	HMEC	breast
20	chr1:186504600-186506400	Enhancers	NHLF	lung
21	chr1:186504600-186507400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:186504800-186505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:186504800-186505800	Enhancers	Colon Smooth Muscle	Colon
24	chr1:186504800-186506200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:186504800-186510200	Weak transcription	Right Atrium	heart
26	chr1:186505000-186505400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:186505000-186505400	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:186505000-186505400	Active TSS	A549	lung
29	chr1:186505000-186505400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:186505200-186506000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:186505200-186506400	Enhancers	HUVEC	blood vessel

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