Variant report

Variant	rs878156
Chromosome Location	chr14:20824859-20824860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20795547..20797603-chr14:20824363..20826588,2	K562	blood:
2	chr14:20809897..20813381-chr14:20823524..20827429,6	MCF-7	breast:
3	chr14:20823563..20825778-chr14:20921246..20923289,2	K562	blood:

Variant related genes	Relation type
ENSG00000259001	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000100814	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1713411	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[ASN][1000 genomes]
rs1713412	0.98[ASN][1000 genomes]
rs1713432	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]
rs1713433	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17242578	1.00[CHB][hapmap]
rs1760914	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[ASN][1000 genomes]
rs1760915	0.98[ASN][1000 genomes]
rs1760916	0.98[ASN][1000 genomes]
rs1760917	0.98[ASN][1000 genomes]
rs1760920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1760921	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[ASN][1000 genomes]
rs1760924	0.88[ASN][1000 genomes]
rs1760925	0.88[ASN][1000 genomes]
rs2249141	0.95[ASN][1000 genomes]
rs2459920	0.96[ASN][1000 genomes]
rs2678681	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2678684	0.88[ASN][1000 genomes]
rs2781367	0.98[ASN][1000 genomes]
rs3093873	0.88[ASN][1000 genomes]
rs35217486	0.85[ASN][1000 genomes]
rs57336845	0.88[ASN][1000 genomes]
rs6575167	1.00[CHB][hapmap]
rs7140961	0.92[CHB][hapmap]
rs7153417	1.00[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
2	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:20813200-20825800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:20813200-20825800	Strong transcription	Fetal Stomach	stomach
13	chr14:20813200-20826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:20813200-20826600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:20813200-20826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:20813200-20827000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:20813200-20827000	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:20813200-20827400	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:20813200-20827600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:20813200-20827600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:20813200-20827800	Strong transcription	Fetal Intestine Large	intestine
22	chr14:20813200-20827800	Strong transcription	Placenta	Placenta
23	chr14:20813200-20828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:20813200-20828400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:20813200-20829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:20813200-20831600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:20813400-20826000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:20813400-20826400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:20813400-20826600	Strong transcription	Fetal Muscle Leg	muscle
31	chr14:20813400-20826600	Strong transcription	Left Ventricle	heart
32	chr14:20813400-20827200	Strong transcription	Brain Anterior Caudate	brain
33	chr14:20813400-20827400	Strong transcription	Brain Hippocampus Middle	brain
34	chr14:20813400-20827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:20813400-20827800	Strong transcription	Liver	Liver
36	chr14:20813400-20828600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:20813400-20829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:20813600-20826200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:20813600-20826800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:20813600-20827000	Strong transcription	Hela-S3	cervix
41	chr14:20813600-20827600	Strong transcription	Adipose Nuclei	Adipose
42	chr14:20813600-20827800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr14:20813600-20827800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:20813600-20827800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:20813600-20827800	Strong transcription	HSMM	muscle
46	chr14:20814200-20827200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:20814200-20827600	Strong transcription	Dnd41	blood
48	chr14:20814800-20826000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr14:20814800-20826600	Strong transcription	GM12878-XiMat	blood
50	chr14:20815000-20827400	Strong transcription	Primary B cells from peripheral blood	blood

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