Variant report

Variant	rs14008
Chromosome Location	chr1:59042181-59042182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59009849..59013755-chr1:59040870..59045611,9	MCF-7	breast:
2	chr1:59010302..59014215-chr1:59041338..59045361,8	MCF-7	breast:
3	chr1:59042150..59043809-chr1:59165578..59167965,2	MCF-7	breast:
4	chr1:59039914..59042841-chr1:59125894..59128684,2	MCF-7	breast:
5	chr1:59039784..59042509-chr1:59074910..59077228,3	MCF-7	breast:
6	chr1:59007888..59009563-chr1:59039964..59042756,2	K562	blood:
7	chr1:59003237..59005403-chr1:59039825..59042747,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162601	Chromatin interaction
ENSG00000173406	Chromatin interaction
ENSG00000162600	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1062964	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs11801938	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs11805701	0.86[ASN][1000 genomes]
rs11805835	0.86[ASN][1000 genomes]
rs11807197	0.86[ASN][1000 genomes]
rs11808438	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs11809508	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17096876	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs17117643	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17117650	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17117654	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17117666	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17117681	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs17117688	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17117699	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs17117714	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17117717	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17117720	0.88[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17117732	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17117747	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs17117850	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs179798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2268943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271005	0.86[ASN][1000 genomes]
rs232835	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs232840	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs338241	0.85[CEU][hapmap];0.88[TSI][hapmap]
rs4912340	0.86[ASN][1000 genomes]
rs4912345	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4912346	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs58370530	0.80[EUR][1000 genomes]
rs58370911	0.86[ASN][1000 genomes]
rs59493428	0.88[ASN][1000 genomes]
rs60008712	0.88[ASN][1000 genomes]
rs60179866	0.89[ASN][1000 genomes]
rs60614132	0.86[ASN][1000 genomes]
rs61629658	0.86[ASN][1000 genomes]
rs61781815	0.86[ASN][1000 genomes]
rs61781821	0.86[ASN][1000 genomes]
rs61781822	0.86[ASN][1000 genomes]
rs61781823	0.86[ASN][1000 genomes]
rs61781824	0.86[ASN][1000 genomes]
rs6587829	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs6674248	0.82[CEU][hapmap]
rs6683669	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686976	0.86[ASN][1000 genomes]
rs725907	0.86[ASN][1000 genomes]
rs72672271	0.80[EUR][1000 genomes]
rs72672286	0.80[EUR][1000 genomes]
rs72672292	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674118	0.80[EUR][1000 genomes]
rs72674121	0.80[EUR][1000 genomes]
rs72674127	0.80[EUR][1000 genomes]
rs729084	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7333	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7535313	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs7537470	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59038400-59043600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:59040200-59043400	Active TSS	NHEK	skin
3	chr1:59040200-59043600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:59040800-59043400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:59040800-59043400	Active TSS	Placenta Amnion	Placenta Amnion
6	chr1:59041000-59043200	Active TSS	HMEC	breast
7	chr1:59041200-59042200	Transcr. at gene 5' and 3'	Esophagus	oesophagus
8	chr1:59041200-59042200	Active TSS	Lung	lung
9	chr1:59041200-59042800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:59041200-59043200	ZNF genes & repeats	GM12878-XiMat	blood
11	chr1:59041200-59044200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr1:59041400-59042200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
13	chr1:59041400-59043000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
14	chr1:59041400-59043200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:59041400-59043200	Active TSS	Hela-S3	cervix
16	chr1:59041400-59043400	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr1:59041400-59043800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:59041400-59043800	Bivalent Enhancer	Fetal Heart	heart
19	chr1:59041600-59042200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:59041600-59042400	Bivalent/Poised TSS	Fetal Lung	lung
21	chr1:59041600-59043000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:59041600-59043000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:59041600-59043200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:59041600-59043200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:59041600-59043200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr1:59041600-59043200	Bivalent/Poised TSS	Thymus	Thymus
27	chr1:59041600-59043400	Active TSS	HUVEC	blood vessel
28	chr1:59041600-59043600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:59041800-59042200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:59041800-59042200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:59041800-59042200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr1:59041800-59042200	Bivalent Enhancer	Placenta	Placenta
33	chr1:59041800-59042200	Bivalent Enhancer	Left Ventricle	heart
34	chr1:59041800-59042200	Active TSS	Right Atrium	heart
35	chr1:59041800-59042200	Bivalent/Poised TSS	NH-A	brain
36	chr1:59041800-59042400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr1:59041800-59042400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:59041800-59042400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
39	chr1:59041800-59042600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:59041800-59042600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
41	chr1:59041800-59042600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
42	chr1:59041800-59042600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr1:59041800-59042600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
44	chr1:59041800-59042600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
45	chr1:59041800-59042600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr1:59041800-59042600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr1:59041800-59042600	Flanking Active TSS	Ovary	ovary
48	chr1:59041800-59042800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
49	chr1:59041800-59042800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr1:59041800-59042800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose

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