Variant report

Variant	rs61742852
Chromosome Location	chr1:114226153-114226154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114222809..114226325-chr1:114228244..114229950,3	K562	blood:
2	chr1:114225092..114226797-chr1:114232767..114235270,2	MCF-7	breast:
3	chr1:114225154..114227023-chr1:114236364..114238546,2	MCF-7	breast:
4	chr1:114225725..114228259-chr1:114231817..114234548,2	MCF-7	breast:
5	chr1:114223956..114226285-chr1:114471378..114474158,2	K562	blood:
6	chr1:114225165..114226915-chr1:114447482..114449116,2	K562	blood:

Variant related genes	Relation type
ENSG00000134262	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000163349	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35955172	1.00[AMR][1000 genomes]
rs6537791	1.00[AMR][1000 genomes]
rs6537796	1.00[AMR][1000 genomes]
rs6673379	1.00[AMR][1000 genomes]
rs6693766	1.00[AMR][1000 genomes]
rs6694929	1.00[AMR][1000 genomes]
rs6700802	1.00[AMR][1000 genomes]
rs7512645	1.00[AMR][1000 genomes]
rs7519133	1.00[AMR][1000 genomes]
rs7527562	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7545980	1.00[AMR][1000 genomes]
rs7547536	1.00[AMR][1000 genomes]
rs7554422	1.00[AMR][1000 genomes]
rs7556589	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
2	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
3	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
5	chr1:114183000-114235800	Weak transcription	Dnd41	blood
6	chr1:114185400-114228000	Weak transcription	HepG2	liver
7	chr1:114196600-114226400	Weak transcription	Gastric	stomach
8	chr1:114200200-114227800	Weak transcription	Stomach Mucosa	stomach
9	chr1:114202000-114241400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:114203000-114232000	Weak transcription	Fetal Brain Female	brain
11	chr1:114203000-114237800	Weak transcription	NH-A	brain
12	chr1:114203200-114232200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:114203200-114237600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
15	chr1:114203400-114237800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:114206600-114226400	Weak transcription	NHLF	lung
17	chr1:114206600-114229800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:114207400-114230600	Weak transcription	NHEK	skin
19	chr1:114209600-114229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:114209800-114232400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:114211200-114231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:114211600-114234600	Weak transcription	Brain Germinal Matrix	brain
23	chr1:114213600-114232000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:114213600-114241600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:114214800-114232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:114215000-114226800	Weak transcription	Ovary	ovary
27	chr1:114215400-114235800	Weak transcription	Esophagus	oesophagus
28	chr1:114215400-114235800	Weak transcription	Lung	lung
29	chr1:114216000-114247000	Weak transcription	HMEC	breast
30	chr1:114216200-114241600	Weak transcription	Pancreas	Pancrea
31	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:114216400-114232000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:114216400-114250400	Weak transcription	Placenta	Placenta
34	chr1:114216600-114227600	Weak transcription	Fetal Thymus	thymus
35	chr1:114216800-114226400	Weak transcription	Primary T cells from cord blood	blood
36	chr1:114218000-114235800	Weak transcription	Psoas Muscle	Psoas
37	chr1:114218200-114227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:114218200-114240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:114220200-114229600	Weak transcription	Osteobl	bone
40	chr1:114220200-114232200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:114220400-114263800	Weak transcription	Fetal Kidney	kidney
42	chr1:114220600-114234400	Weak transcription	HSMMtube	muscle
43	chr1:114220600-114235800	Weak transcription	HSMM	muscle
44	chr1:114220600-114237600	Weak transcription	Fetal Heart	heart
45	chr1:114220800-114226600	Weak transcription	K562	blood
46	chr1:114221000-114226200	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:114221000-114236000	Weak transcription	A549	lung
48	chr1:114222200-114229600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:114223400-114228400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:114223400-114228400	Strong transcription	Liver	Liver

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