Variant report

Variant	rs60414862
Chromosome Location	chr3:135913296-135913297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135913275..135917052-chr3:135966241..135970685,15	MCF-7	breast:
2	chr3:135912206..135917353-chr3:135967047..135972220,20	MCF-7	breast:
3	chr3:135912324..135920790-chr3:135965276..135971841,24	K562	blood:
4	chr3:135912902..135916874-chr3:136469598..136473232,8	MCF-7	breast:
5	chr3:135912817..135916962-chr3:136469681..136473212,8	K562	blood:
6	chr3:135912523..135919453-chr3:135966949..135972062,29	K562	blood:

Variant related genes	Relation type
ENSG00000118007	Chromatin interaction
ENSG00000114054	Chromatin interaction
ENSG00000261758	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs34149860	1.00[EUR][1000 genomes]
rs55655018	1.00[EUR][1000 genomes]
rs56722014	1.00[EUR][1000 genomes]
rs58336248	1.00[EUR][1000 genomes]
rs58493992	1.00[EUR][1000 genomes]
rs59778182	1.00[EUR][1000 genomes]
rs61160497	1.00[EUR][1000 genomes]
rs6790219	1.00[EUR][1000 genomes]
rs73863190	1.00[EUR][1000 genomes]
rs73863191	1.00[EUR][1000 genomes]
rs73863333	1.00[EUR][1000 genomes]
rs73863336	1.00[EUR][1000 genomes]
rs73863337	1.00[EUR][1000 genomes]
rs73863608	1.00[EUR][1000 genomes]
rs73863611	1.00[EUR][1000 genomes]
rs73865203	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7613584	1.00[EUR][1000 genomes]
rs7626261	1.00[EUR][1000 genomes]
rs9917813	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS 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	50 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	chr3:135907400-135914600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr3:135910000-135915600	Active TSS	GM12878-XiMat	blood
3	chr3:135910000-135916400	Active TSS	Thymus	Thymus
4	chr3:135910200-135913600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr3:135910200-135913800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:135910200-135916400	Active TSS	Aorta	Aorta
7	chr3:135910400-135914000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:135910400-135916200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:135910600-135914400	Active TSS	Right Atrium	heart
10	chr3:135910600-135916000	Active TSS	HSMM	muscle
11	chr3:135910600-135916200	Active TSS	Colon Smooth Muscle	Colon
12	chr3:135910600-135916200	Active TSS	Ovary	ovary
13	chr3:135910600-135916200	Active TSS	Stomach Smooth Muscle	stomach
14	chr3:135910600-135916400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:135910600-135916400	Active TSS	Colonic Mucosa	Colon
16	chr3:135910800-135913600	Active TSS	Brain Germinal Matrix	brain
17	chr3:135910800-135915800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr3:135910800-135915800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr3:135910800-135915800	Active TSS	HMEC	breast
20	chr3:135910800-135916000	Active TSS	NHLF	lung
21	chr3:135910800-135916200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:135910800-135916200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr3:135910800-135916200	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr3:135910800-135916200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:135910800-135916200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr3:135910800-135916200	Active TSS	NHDF-Ad	bronchial
27	chr3:135910800-135916400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr3:135910800-135916400	Active TSS	Fetal Intestine Large	intestine
29	chr3:135910800-135916800	Active TSS	K562	blood
30	chr3:135911000-135916200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:135911000-135916200	Active TSS	Hela-S3	cervix
32	chr3:135911200-135913600	Active TSS	Fetal Intestine Small	intestine
33	chr3:135911200-135916000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr3:135911200-135916200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:135911200-135916200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr3:135911200-135916400	Active TSS	Fetal Kidney	kidney
37	chr3:135911400-135913400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:135911400-135913600	Active TSS	Fetal Stomach	stomach
39	chr3:135911400-135915400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:135911400-135915600	Active TSS	Primary T cells fromperipheralblood	blood
41	chr3:135911400-135916000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:135911400-135916200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:135911400-135916200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr3:135911400-135916200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:135911400-135916600	Active TSS	Psoas Muscle	Psoas
46	chr3:135911400-135916600	Active TSS	Right Ventricle	heart
47	chr3:135911600-135916000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:135911600-135916400	Active TSS	H1 Cell Line	embryonic stem cell
49	chr3:135911600-135916400	Active TSS	HSMMtube	muscle
50	chr3:135911800-135913600	Active TSS	Fetal Lung	lung

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