Variant report

Variant	rs4020126
Chromosome Location	chr14:78401700-78401701
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	chr14:78388854..78391135-chr14:78400712..78403382,2	K562	blood:
2	chr14:78391749..78395575-chr14:78398550..78402914,3	K562	blood:

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11159310	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12587141	0.81[CHB][hapmap];0.91[ASN][1000 genomes]
rs17753430	0.93[CEU][hapmap]
rs2287653	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302944	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783954	0.97[ASN][1000 genomes]
rs3783955	0.97[ASN][1000 genomes]
rs4020127	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55748376	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141888	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	esv34345	chr14:78370455-78496587	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2757576	chr14:78379156-78502019	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759999	chr14:78379156-78502019	Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:78395200-78402200	Strong transcription	Primary T cells from cord blood	blood
3	chr14:78396600-78401800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:78396600-78402000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:78396600-78402800	Strong transcription	Stomach Smooth Muscle	stomach
6	chr14:78397200-78402000	Weak transcription	Right Atrium	heart
7	chr14:78397200-78402200	Strong transcription	Adipose Nuclei	Adipose
8	chr14:78397200-78403000	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:78398000-78401800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:78398000-78402400	Strong transcription	Liver	Liver
11	chr14:78398000-78403400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:78398200-78402600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:78398600-78402200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:78398600-78403000	Strong transcription	Brain Hippocampus Middle	brain
15	chr14:78399000-78401800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:78399400-78401800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr14:78399600-78402200	ZNF genes & repeats	Lung	lung
18	chr14:78399800-78403000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:78400000-78401800	Strong transcription	Pancreas	Pancrea
20	chr14:78400000-78404200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:78400000-78404800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:78400200-78402000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:78400200-78402000	Weak transcription	Psoas Muscle	Psoas
24	chr14:78400200-78404800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:78400400-78402200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:78400400-78402200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:78400400-78402200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:78400400-78402400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:78400400-78402600	ZNF genes & repeats	Dnd41	blood
30	chr14:78400400-78404400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:78400600-78401800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr14:78400600-78401800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:78400600-78401800	Weak transcription	Brain Germinal Matrix	brain
34	chr14:78400600-78402000	Weak transcription	HepG2	liver
35	chr14:78400600-78402000	Weak transcription	HSMMtube	muscle
36	chr14:78400600-78405200	Weak transcription	Brain Substantia Nigra	brain
37	chr14:78400600-78407400	Weak transcription	Brain Angular Gyrus	brain
38	chr14:78400800-78402000	Weak transcription	Brain Anterior Caudate	brain
39	chr14:78400800-78402200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:78400800-78402200	Weak transcription	Fetal Intestine Large	intestine
41	chr14:78400800-78402600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr14:78400800-78402800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:78400800-78403000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr14:78400800-78405400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:78401000-78401800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:78401000-78401800	Weak transcription	Fetal Intestine Small	intestine
47	chr14:78401000-78401800	Weak transcription	Left Ventricle	heart
48	chr14:78401000-78402000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:78401000-78402000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:78401000-78402000	Weak transcription	Fetal Stomach	stomach

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