Variant report

Variant	rs56290988
Chromosome Location	chr1:166811149-166811150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166810529..166812813-chr1:166843777..166846056,3	K562	blood:
2	chr1:166789432..166792373-chr1:166811035..166813066,2	K562	blood:
3	chr1:166805232..166812474-chr1:166842359..166847542,11	MCF-7	breast:
4	chr1:166811015..166814077-chr1:166825139..166827323,3	MCF-7	breast:
5	chr1:166810319..166812756-chr20:58636526..58639447,2	MCF-7	breast:
6	chr1:166810016..166811525-chr1:166822714..166824801,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16858144	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55675362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55737217	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55866154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56052427	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56252399	0.85[AMR][1000 genomes]
rs56383249	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166809600-166844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:166809800-166811200	Weak transcription	Small Intestine	intestine
3	chr1:166810000-166811200	Genic enhancers	Primary T cells from cord blood	blood
4	chr1:166810000-166811600	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:166810000-166811600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:166810000-166812000	Genic enhancers	HepG2	liver
7	chr1:166810000-166814800	Genic enhancers	Right Ventricle	heart
8	chr1:166810000-166815800	Genic enhancers	Spleen	Spleen
9	chr1:166810200-166811800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:166810200-166811800	Genic enhancers	Fetal Lung	lung
11	chr1:166810200-166812000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:166810200-166813200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:166810200-166813200	Genic enhancers	Brain Substantia Nigra	brain
14	chr1:166810200-166815000	Genic enhancers	Lung	lung
15	chr1:166810200-166820600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:166810400-166811400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:166810400-166811400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:166810400-166811800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:166810400-166811800	Strong transcription	Fetal Thymus	thymus
20	chr1:166810400-166812400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:166810400-166812400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:166810400-166812800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:166810400-166813000	Genic enhancers	Brain Germinal Matrix	brain
24	chr1:166810400-166813000	Strong transcription	HSMMtube	muscle
25	chr1:166810400-166813400	Genic enhancers	NHDF-Ad	bronchial
26	chr1:166810400-166813600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:166810400-166813800	Genic enhancers	Fetal Intestine Large	intestine
28	chr1:166810400-166814200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:166810400-166814400	Genic enhancers	Gastric	stomach
30	chr1:166810400-166815800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:166810400-166817200	Genic enhancers	Left Ventricle	heart
32	chr1:166810400-166820600	Strong transcription	Ovary	ovary
33	chr1:166810400-166822000	Strong transcription	Thymus	Thymus
34	chr1:166810400-166828600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:166810600-166811200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr1:166810600-166811400	Genic enhancers	Primary hematopoietic stem cells	blood
37	chr1:166810600-166811600	Strong transcription	Liver	Liver
38	chr1:166810600-166811800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:166810600-166812000	Genic enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:166810600-166812000	Genic enhancers	Hela-S3	cervix
41	chr1:166810600-166812400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:166810600-166812400	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:166810600-166812600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:166810600-166812600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:166810600-166812800	Genic enhancers	Brain Hippocampus Middle	brain
46	chr1:166810600-166813000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:166810600-166813000	Genic enhancers	Brain Angular Gyrus	brain
48	chr1:166810600-166813000	Genic enhancers	Fetal Brain Female	brain
49	chr1:166810600-166813200	Strong transcription	HSMM	muscle
50	chr1:166810600-166813600	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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