Variant report

Variant	rs4981150
Chromosome Location	chr14:20790470-20790471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20786888..20790712-chr14:20796897..20800765,3	K562	blood:
2	chr14:20788029..20790732-chr14:20793984..20796288,4	MCF-7	breast:
3	chr14:20789888..20792247-chr14:20810100..20811908,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129484	Chromatin interaction
ENSG00000100814	Chromatin interaction
ENSG00000238344	Chromatin interaction
ENSG00000259001	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10129957	0.82[CEU][hapmap]
rs10147163	0.82[CEU][hapmap]
rs10148359	0.81[CEU][hapmap]
rs10873395	0.81[CEU][hapmap];0.81[ASN][1000 genomes]
rs11622655	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891805	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1889362	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297616	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2700	0.85[CHB][hapmap]
rs3093882	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3093890	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3093897	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3093902	0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3093904	0.90[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3093907	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3093933	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs3093939	0.81[CEU][hapmap]
rs3093942	0.81[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs4981153	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981158	0.81[CEU][hapmap]
rs4981957	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981983	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4981998	0.87[EUR][1000 genomes]
rs57101853	0.87[EUR][1000 genomes]
rs58530849	0.87[EUR][1000 genomes]
rs6575124	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6575135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155699	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161611	0.81[CEU][hapmap]
rs8009242	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014147	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8022565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022671	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs878157	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs884368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323870	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20774200-20795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:20774200-20795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:20774200-20795600	Weak transcription	Fetal Heart	heart
4	chr14:20774200-20800400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:20774200-20800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:20774200-20800400	Weak transcription	Fetal Brain Male	brain
7	chr14:20774200-20800400	Weak transcription	Stomach Mucosa	stomach
8	chr14:20774200-20800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:20774200-20800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:20774200-20800800	Weak transcription	Small Intestine	intestine
11	chr14:20778800-20798600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:20779000-20795600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:20779400-20794000	Strong transcription	Left Ventricle	heart
14	chr14:20779400-20794200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:20779400-20794800	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr14:20779400-20794800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:20779400-20795000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:20779400-20795000	Strong transcription	Osteobl	bone
19	chr14:20779400-20795200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:20779400-20795200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:20779400-20795400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:20779400-20797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:20779400-20797200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:20779400-20797800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr14:20779400-20798000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:20779400-20799000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:20779600-20790800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr14:20779600-20793000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:20779600-20793200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:20779600-20794800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:20779600-20794800	Strong transcription	HepG2	liver
32	chr14:20779600-20795000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:20779600-20795000	Strong transcription	Liver	Liver
34	chr14:20779600-20795000	Strong transcription	Dnd41	blood
35	chr14:20779600-20795200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:20779600-20795400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:20779600-20795400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:20779600-20795600	Strong transcription	NH-A	brain
39	chr14:20779600-20798200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:20779800-20795000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr14:20780000-20795400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:20780200-20795400	Strong transcription	HUVEC	blood vessel
43	chr14:20780400-20794800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr14:20780400-20795400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:20781000-20795400	Weak transcription	Brain Angular Gyrus	brain
46	chr14:20781800-20795400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:20781800-20798600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:20782000-20796800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:20782600-20792400	Weak transcription	Psoas Muscle	Psoas
50	chr14:20782600-20794200	Weak transcription	HSMMtube	muscle

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