Variant report

Variant	rs3784142
Chromosome Location	chr14:70079138-70079139
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70078185..70080215-chr14:70232416..70234645,2	K562	blood:
2	chr14:70078750..70079338-chr14:70193348..70193999,2	MCF-7	breast:
3	chr14:70078362..70080995-chr14:70181831..70184954,3	MCF-7	breast:
4	chr14:70078352..70079224-chr16:2014382..2015342,3	Hela-S3	cervix:
5	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
6	chr14:70078988..70081475-chr14:70103806..70105577,2	MCF-7	breast:
7	chr14:70078972..70081003-chr14:70168060..70169859,2	MCF-7	breast:
8	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
9	chr14:70078651..70079377-chr18:12990690..12991548,2	Hela-S3	cervix:
10	chr14:70078354..70079913-chr14:70192981..70195416,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000266969	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000140988	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10138481	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10498530	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17107164	1.00[MEX][hapmap]
rs17107165	1.00[MEX][hapmap]
rs17107166	1.00[MEX][hapmap]
rs74060224	1.00[ASN][1000 genomes]
rs74060242	0.83[ASN][1000 genomes]
rs762049	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3388575	chr14:70077224-70080072	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70076800-70079200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:70077200-70079200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr14:70077400-70079600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:70077400-70079600	Active TSS	HSMMtube	muscle
5	chr14:70077400-70079800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:70077400-70080200	Active TSS	Psoas Muscle	Psoas
7	chr14:70077600-70079200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:70077600-70079200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:70077600-70079200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:70077600-70079200	Active TSS	Brain Anterior Caudate	brain
11	chr14:70077600-70079200	Active TSS	Pancreas	Pancrea
12	chr14:70077600-70079400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70077600-70079400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:70077600-70079400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:70077600-70079400	Active TSS	HSMM	muscle
16	chr14:70077600-70079400	Active TSS	K562	blood
17	chr14:70077600-70079600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr14:70077600-70079600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:70077600-70079600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr14:70077600-70079600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:70077600-70079800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:70077600-70079800	Active TSS	Ovary	ovary
23	chr14:70077600-70080000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:70077600-70080000	Active TSS	NHLF	lung
25	chr14:70077600-70080200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr14:70077600-70080200	Active TSS	Aorta	Aorta
27	chr14:70077600-70080200	Active TSS	Left Ventricle	heart
28	chr14:70077600-70081000	Active TSS	Esophagus	oesophagus
29	chr14:70077800-70079200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:70077800-70079200	Active TSS	Primary T cells from cord blood	blood
31	chr14:70077800-70079200	Active TSS	Brain Angular Gyrus	brain
32	chr14:70077800-70079200	Active TSS	Brain Cingulate Gyrus	brain
33	chr14:70077800-70079200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr14:70077800-70079200	Active TSS	Stomach Smooth Muscle	stomach
35	chr14:70077800-70079200	Active TSS	A549	lung
36	chr14:70077800-70079400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr14:70077800-70079400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:70077800-70079400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:70077800-70079400	Active TSS	Colon Smooth Muscle	Colon
40	chr14:70077800-70079400	Active TSS	Duodenum Mucosa	Duodenum
41	chr14:70077800-70079400	Active TSS	Fetal Brain Female	brain
42	chr14:70077800-70079400	Bivalent/Poised TSS	HepG2	liver
43	chr14:70077800-70079400	Active TSS	NH-A	brain
44	chr14:70077800-70079600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:70077800-70079600	Active TSS	Fetal Kidney	kidney
46	chr14:70077800-70079600	Active TSS	Gastric	stomach
47	chr14:70077800-70079800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:70077800-70079800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:70077800-70079800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr14:70077800-70079800	Active TSS	Small Intestine	intestine

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