Variant report

Variant	rs41506147
Chromosome Location	chr14:69054145-69054146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69021201..69023551-chr14:69053894..69056000,2	MCF-7	breast:
2	chr14:69053718..69056599-chr14:69063479..69065769,2	K562	blood:
3	chr14:68406708..68410646-chr14:69052499..69056687,4	MCF-7	breast:
4	chr14:69047861..69051902-chr14:69052585..69055305,4	MCF-7	breast:
5	chr14:69053766..69056397-chr14:69258298..69260703,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12895438	1.00[ASW][hapmap]
rs17757282	1.00[ASW][hapmap]
rs41519944	1.00[ASW][hapmap]
rs761951	1.00[ASW][hapmap]
rs8009034	1.00[ASW][hapmap]

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	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69047400-69060200	Weak transcription	Spleen	Spleen
2	chr14:69049800-69064000	Enhancers	Fetal Muscle Leg	muscle
3	chr14:69050200-69055000	Enhancers	Esophagus	oesophagus
4	chr14:69050200-69058800	Enhancers	Fetal Muscle Trunk	muscle
5	chr14:69050200-69058800	Enhancers	Placenta	Placenta
6	chr14:69051000-69055800	Enhancers	Fetal Thymus	thymus
7	chr14:69051000-69057000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:69051000-69057000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:69051200-69058200	Enhancers	NHDF-Ad	bronchial
10	chr14:69051200-69061800	Enhancers	Fetal Stomach	stomach
11	chr14:69051400-69057200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:69051400-69057400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:69051400-69058000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:69051600-69054800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:69051600-69057200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:69051800-69057600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:69052000-69057600	Enhancers	Fetal Lung	lung
18	chr14:69052000-69057800	Enhancers	Colon Smooth Muscle	Colon
19	chr14:69052200-69054600	Enhancers	Stomach Mucosa	stomach
20	chr14:69052200-69058000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:69052400-69054200	Weak transcription	Psoas Muscle	Psoas
22	chr14:69052400-69054800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:69052600-69054800	Enhancers	Colonic Mucosa	Colon
24	chr14:69052600-69055600	Weak transcription	HepG2	liver
25	chr14:69052600-69057400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr14:69052600-69057800	Enhancers	Adipose Nuclei	Adipose
27	chr14:69052600-69060400	Weak transcription	Osteobl	bone
28	chr14:69052800-69055200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:69052800-69057000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:69052800-69059600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:69052800-69064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:69053000-69054200	Enhancers	Brain Germinal Matrix	brain
33	chr14:69053000-69054400	Enhancers	Right Ventricle	heart
34	chr14:69053000-69054800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:69053000-69054800	Enhancers	Fetal Intestine Large	intestine
36	chr14:69053000-69055000	Enhancers	Fetal Brain Female	brain
37	chr14:69053000-69055000	Enhancers	Hela-S3	cervix
38	chr14:69053000-69056800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:69053200-69054200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:69053200-69054200	Weak transcription	Brain Angular Gyrus	brain
41	chr14:69053200-69054200	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:69053200-69054200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:69053200-69054600	Enhancers	NHEK	skin
44	chr14:69053200-69054800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:69053200-69054800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:69053200-69054800	Enhancers	Lung	lung
47	chr14:69053200-69056600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:69053400-69055600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:69053400-69056800	Weak transcription	Pancreas	Pancrea
50	chr14:69053400-69064800	Weak transcription	Brain Substantia Nigra	brain

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