Variant report

Variant	rs1951605
Chromosome Location	chr14:81989498-81989499
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81987859..81989617-chr14:81991789..81993839,2	MCF-7	breast:
2	chr14:81988735..81994099-chr14:81997820..82001721,7	K562	blood:
3	chr14:81685620..81688509-chr14:81987994..81993148,6	K562	blood:
4	chr14:81988127..81990329-chr14:81990342..81992734,2	K562	blood:

Variant related genes	Relation type
ENSG00000071537	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10135007	0.89[EUR][1000 genomes]
rs10141903	0.89[EUR][1000 genomes]
rs11159502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11847098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889565	0.82[AMR][1000 genomes]
rs12890754	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12893669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896918	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12897062	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1885599	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap]
rs1951609	0.86[CEU][hapmap]
rs2025214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28455614	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4584759	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4903983	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4903984	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4903985	0.86[CEU][hapmap]
rs7150294	0.87[EUR][1000 genomes]
rs7150676	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7401055	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81967600-81999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:81972600-81989800	Weak transcription	HMEC	breast
3	chr14:81973800-81999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:81973800-81999400	Weak transcription	Esophagus	oesophagus
5	chr14:81974800-81998200	Weak transcription	Fetal Brain Male	brain
6	chr14:81980800-81991600	Strong transcription	Fetal Brain Female	brain
7	chr14:81981200-81999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:81982400-81993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:81982600-81991600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:81983000-81993600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:81983200-81993600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:81983200-81999400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:81983800-81999400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:81984000-81989600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:81984000-81998800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:81984200-81989600	Weak transcription	Brain Germinal Matrix	brain
17	chr14:81984200-81993000	Weak transcription	HSMMtube	muscle
18	chr14:81984200-81993600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:81984200-81999200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:81984400-81990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:81984400-81999400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:81984600-81990400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:81984600-81990800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:81985800-81989800	Weak transcription	Left Ventricle	heart
25	chr14:81986000-81989600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:81986000-81998600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:81986200-81989600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:81986200-81993800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:81986400-81989600	Weak transcription	Aorta	Aorta
30	chr14:81986400-81989600	Weak transcription	Gastric	stomach
31	chr14:81986400-81990600	Weak transcription	Right Ventricle	heart
32	chr14:81986400-81991600	Strong transcription	Fetal Intestine Large	intestine
33	chr14:81986400-81992600	Weak transcription	A549	lung
34	chr14:81986400-81996600	Weak transcription	Psoas Muscle	Psoas
35	chr14:81986400-81997200	Weak transcription	Fetal Heart	heart
36	chr14:81986400-81998800	Weak transcription	Hela-S3	cervix
37	chr14:81986600-81993800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr14:81986600-81994000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:81986800-81989800	Genic enhancers	Liver	Liver
40	chr14:81986800-81989800	Strong transcription	Colonic Mucosa	Colon
41	chr14:81986800-81990400	Strong transcription	Fetal Kidney	kidney
42	chr14:81986800-81993200	Strong transcription	Fetal Thymus	thymus
43	chr14:81986800-81993800	Strong transcription	Fetal Lung	lung
44	chr14:81987000-81993600	Strong transcription	NH-A	brain
45	chr14:81987000-81993800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:81987000-81993800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr14:81987000-81998200	Weak transcription	Small Intestine	intestine
48	chr14:81987200-81994200	Strong transcription	Dnd41	blood
49	chr14:81987400-81989800	Strong transcription	GM12878-XiMat	blood
50	chr14:81987400-81991000	Strong transcription	Brain Anterior Caudate	brain

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