Variant report

Variant	rs59744952
Chromosome Location	chr8:99213972-99213973
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	chr8:99212561..99215208-chr8:99218672..99220234,2	MCF-7	breast:
2	chr8:99212047..99214216-chr8:99217227..99220210,2	K562	blood:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56326963	0.99[AFR][1000 genomes]
rs6468621	0.85[AFR][1000 genomes]
rs6468622	0.85[AFR][1000 genomes]
rs6982321	0.81[AFR][1000 genomes]
rs73698716	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73698753	0.83[AFR][1000 genomes]
rs7827425	0.81[AFR][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99192200-99214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:99194800-99216600	Weak transcription	Colonic Mucosa	Colon
4	chr8:99197000-99219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:99197800-99215400	Weak transcription	Fetal Stomach	stomach
6	chr8:99198000-99217000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:99198200-99215200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:99198200-99239200	Weak transcription	Lung	lung
9	chr8:99201800-99214400	Weak transcription	Left Ventricle	heart
10	chr8:99202000-99215200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:99202000-99215200	Weak transcription	NHDF-Ad	bronchial
12	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:99204000-99214200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:99204600-99214800	Weak transcription	Gastric	stomach
15	chr8:99205200-99214400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:99205200-99214400	Weak transcription	Fetal Intestine Large	intestine
17	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:99205400-99214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:99205600-99214600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:99205600-99220000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:99206400-99216600	Weak transcription	Aorta	Aorta
22	chr8:99206600-99224400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:99206600-99239800	Weak transcription	Pancreas	Pancrea
24	chr8:99208000-99227600	Weak transcription	Esophagus	oesophagus
25	chr8:99209400-99217600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:99210800-99214400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:99210800-99215200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:99211000-99215400	Weak transcription	Osteobl	bone
29	chr8:99211000-99215600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:99211000-99215800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:99211000-99216200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:99211000-99216800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:99211200-99243200	Weak transcription	Fetal Lung	lung
34	chr8:99211400-99216400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:99211600-99219400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:99212000-99220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:99212400-99216200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:99212800-99214400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:99213200-99223600	Weak transcription	HMEC	breast
40	chr8:99213200-99225800	Weak transcription	Fetal Heart	heart
41	chr8:99213200-99239800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:99213400-99215000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:99213600-99214600	Weak transcription	Ovary	ovary

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