Variant report

Variant	rs57550992
Chromosome Location	chr1:186411912-186411913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186410632..186413152-chr1:186416805..186419247,2	K562	blood:
2	chr1:186410546..186412201-chr1:186413904..186416292,2	K562	blood:

Variant related genes	Relation type
ENSG00000116703	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16825618	1.00[EUR][1000 genomes]
rs3851883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41393449	1.00[EUR][1000 genomes]
rs56294639	1.00[EUR][1000 genomes]
rs57219691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58767753	1.00[EUR][1000 genomes]
rs61403154	1.00[EUR][1000 genomes]
rs6661312	1.00[EUR][1000 genomes]
rs6672847	1.00[EUR][1000 genomes]
rs6675113	1.00[EUR][1000 genomes]
rs6702184	1.00[EUR][1000 genomes]
rs74134715	1.00[EUR][1000 genomes]
rs7555943	1.00[EUR][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	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	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186388600-186417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:186389000-186413000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:186389600-186415600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:186394000-186414400	Weak transcription	HSMM	muscle
5	chr1:186394600-186414600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:186395600-186413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:186404200-186431400	Weak transcription	GM12878-XiMat	blood
8	chr1:186406000-186414600	Weak transcription	Right Ventricle	heart
9	chr1:186406600-186421000	Weak transcription	Left Ventricle	heart
10	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:186409000-186413400	Enhancers	Hela-S3	cervix
12	chr1:186409800-186413400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:186410000-186413400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:186410600-186412800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:186411000-186412400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:186411400-186412400	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:186411400-186412400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:186411400-186412400	Enhancers	NHEK	skin
19	chr1:186411400-186412400	Enhancers	Osteobl	bone
20	chr1:186411400-186412600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:186411400-186412600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:186411600-186412000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:186411600-186412000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:186411600-186412000	Flanking Active TSS	HUVEC	blood vessel
25	chr1:186411600-186412200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:186411600-186412200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:186411600-186412200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:186411600-186412200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:186411600-186412200	Enhancers	A549	lung
30	chr1:186411600-186412200	Enhancers	NH-A	brain
31	chr1:186411600-186412400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:186411600-186412600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:186411800-186412000	Enhancers	Brain Anterior Caudate	brain
34	chr1:186411800-186412200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:186411800-186412200	Enhancers	HMEC	breast

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