Variant report

Variant	rs10147311
Chromosome Location	chr14:68605772-68605773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68541688..68545482-chr14:68601842..68606347,5	MCF-7	breast:
2	chr14:68604504..68610375-chr14:68709920..68717829,10	MCF-7	breast:
3	chr14:68604670..68608287-chr14:68720771..68726254,6	MCF-7	breast:
4	chr14:68604794..68607877-chr14:68715482..68717811,3	MCF-7	breast:
5	chr14:68405207..68413374-chr14:68603625..68613921,22	MCF-7	breast:
6	chr14:68477430..68479378-chr14:68605604..68607535,2	MCF-7	breast:
7	chr14:68604513..68607685-chr14:69281847..69284792,3	MCF-7	breast:
8	chr14:68508469..68511778-chr14:68605587..68608728,3	MCF-7	breast:
9	chr14:68601379..68608308-chr14:69256404..69263440,24	MCF-7	breast:
10	chr14:68604795..68607491-chr14:68924394..68928105,4	MCF-7	breast:
11	chr14:68604553..68606506-chr14:68645240..68647824,2	MCF-7	breast:
12	chr14:68605654..68608460-chr14:68861850..68864803,2	MCF-7	breast:
13	chr14:68588139..68594823-chr14:68601028..68606199,6	MCF-7	breast:
14	chr14:68560697..68562735-chr14:68604921..68607630,2	MCF-7	breast:
15	chr14:68569854..68573880-chr14:68602556..68607160,7	MCF-7	breast:
16	chr14:68603270..68607294-chr14:68934008..68937330,4	MCF-7	breast:
17	chr14:68431210..68433040-chr14:68605467..68607589,3	MCF-7	breast:
18	chr14:68604583..68613347-chr14:69257128..69263457,24	MCF-7	breast:
19	chr14:68602495..68610533-chr14:68655867..68660749,19	MCF-7	breast:
20	chr14:68605260..68609256-chr14:68928539..68930539,3	MCF-7	breast:
21	chr14:68569098..68575378-chr14:68600721..68608879,10	MCF-7	breast:
22	chr14:68604115..68608838-chr14:68697064..68703970,11	MCF-7	breast:
23	chr14:68604826..68607033-chr14:68746486..68749072,2	MCF-7	breast:
24	chr14:68601506..68610081-chr14:68654290..68661321,21	MCF-7	breast:
25	chr14:68605361..68607383-chr14:68924952..68927307,3	MCF-7	breast:
26	chr14:68563027..68566553-chr14:68604012..68608205,4	MCF-7	breast:
27	chr14:68604998..68610062-chr14:68640494..68644617,7	MCF-7	breast:
28	chr14:68603253..68606404-chr14:68630681..68636382,6	MCF-7	breast:
29	chr14:68604940..68608294-chr14:68678371..68680438,3	MCF-7	breast:
30	chr14:68605282..68608015-chr14:68828516..68831935,3	MCF-7	breast:
31	chr14:68604554..68607336-chr14:68675149..68677760,3	MCF-7	breast:
32	chr14:68604526..68606535-chr14:68626039..68628332,2	MCF-7	breast:
33	chr14:68546114..68557712-chr14:68603959..68613316,23	MCF-7	breast:
34	chr14:68605465..68608854-chr14:68724307..68725901,3	MCF-7	breast:
35	chr14:68605640..68609689-chr14:68681508..68683618,3	MCF-7	breast:
36	chr14:68405383..68414524-chr14:68603693..68608960,22	MCF-7	breast:
37	chr14:68430411..68433270-chr14:68602747..68607900,7	MCF-7	breast:
38	chr14:68604727..68607514-chr14:68664007..68665710,2	MCF-7	breast:
39	chr14:68438169..68440796-chr14:68604712..68608303,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243546	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10129355	0.88[JPT][hapmap]
rs10129612	0.89[JPT][hapmap]
rs10132022	0.88[JPT][hapmap]
rs10132711	0.84[JPT][hapmap]
rs10132828	0.82[JPT][hapmap]
rs10133770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10134124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10134320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10134664	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10135046	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10135256	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10135316	0.89[JPT][hapmap]
rs10137330	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137457	1.00[JPT][hapmap]
rs10137712	0.88[JPT][hapmap]
rs10139236	0.89[JPT][hapmap]
rs10139386	0.89[JPT][hapmap]
rs10141018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143219	0.89[JPT][hapmap]
rs10143455	0.88[JPT][hapmap]
rs10143895	0.89[JPT][hapmap]
rs10144128	0.88[JPT][hapmap]
rs10144224	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10145197	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10146719	0.89[JPT][hapmap]
rs10146831	0.86[JPT][hapmap]
rs10147569	0.88[JPT][hapmap]
rs10148713	1.00[EUR][1000 genomes]
rs10149801	0.82[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10150584	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151123	0.89[JPT][hapmap]
rs10151317	0.89[JPT][hapmap]
rs1080958	0.89[JPT][hapmap]
rs10873211	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10873212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158710	0.88[JPT][hapmap]
rs11158719	0.88[JPT][hapmap]
rs11158720	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622787	0.88[JPT][hapmap]
rs11623355	0.88[JPT][hapmap]
rs11623467	0.88[JPT][hapmap]
rs11844842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11847339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11849196	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11851597	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11851991	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12437178	0.88[JPT][hapmap]
rs13329056	0.82[JPT][hapmap]
rs1548264	0.89[JPT][hapmap]
rs1548265	0.88[JPT][hapmap]
rs17104786	0.88[JPT][hapmap]
rs17104793	0.88[JPT][hapmap]
rs17104796	0.88[JPT][hapmap]
rs17104799	0.88[JPT][hapmap]
rs17104823	0.88[JPT][hapmap]
rs17104824	0.89[JPT][hapmap]
rs17104827	0.89[JPT][hapmap]
rs17104829	0.89[JPT][hapmap]
rs17104862	1.00[JPT][hapmap]
rs17104863	1.00[JPT][hapmap]
rs17104880	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17104889	0.88[JPT][hapmap]
rs17104900	1.00[JPT][hapmap]
rs17104908	0.88[JPT][hapmap]
rs17104917	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17104947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17104953	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17104992	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17105001	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1950766	0.88[JPT][hapmap]
rs1951411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1980654	0.88[JPT][hapmap]
rs1980655	0.88[JPT][hapmap]
rs2057361	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2208596	0.88[JPT][hapmap]
rs2767364	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28372014	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28716846	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34370899	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902550	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60562079	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60841871	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573802	0.86[JPT][hapmap]
rs6573805	0.88[JPT][hapmap]
rs6573815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145089	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7147522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7147935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7148799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149343	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150168	0.88[JPT][hapmap]
rs7150716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153978	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154725	0.89[JPT][hapmap]
rs7155152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7157152	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7157550	0.89[JPT][hapmap]
rs7158544	0.88[JPT][hapmap]
rs7160068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7161070	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73286292	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7359083	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8007347	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8008413	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8011367	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8012493	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8014000	0.88[JPT][hapmap]
rs8018029	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs8020512	0.88[JPT][hapmap]
rs8020795	0.88[JPT][hapmap]
rs957930	1.00[JPT][hapmap]
rs9652362	0.89[JPT][hapmap]
rs9652363	0.89[JPT][hapmap]
rs9652364	0.89[JPT][hapmap]
rs9672111	1.00[JPT][hapmap]
rs9796374	0.88[JPT][hapmap]

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68592400-68606200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:68600000-68606200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:68601200-68606400	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:68601800-68607200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:68601800-68608800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:68601800-68613600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:68601800-68614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:68601800-68614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:68601800-68615600	Enhancers	HMEC	breast
10	chr14:68602000-68607400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:68602200-68606600	Enhancers	NHEK	skin
12	chr14:68602400-68609600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:68602400-68610200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:68603400-68608800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:68603600-68608000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:68603800-68605800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:68603800-68606200	Enhancers	Hela-S3	cervix
18	chr14:68603800-68606400	Enhancers	NHDF-Ad	bronchial
19	chr14:68603800-68607600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:68603800-68607800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:68603800-68608400	Enhancers	Colon Smooth Muscle	Colon
22	chr14:68603800-68608600	Enhancers	Fetal Lung	lung
23	chr14:68603800-68611400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:68603800-68612400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:68603800-68612800	Enhancers	Fetal Intestine Large	intestine
26	chr14:68603800-68614000	Enhancers	Fetal Intestine Small	intestine
27	chr14:68603800-68614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:68603800-68614600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:68603800-68614800	Enhancers	HSMM	muscle
30	chr14:68604000-68606200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:68604000-68607600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:68604000-68607600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:68604000-68608400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr14:68604000-68608800	Enhancers	Fetal Kidney	kidney
35	chr14:68604000-68609000	Enhancers	NH-A	brain
36	chr14:68604000-68611400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:68604200-68608800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:68604200-68608800	Enhancers	Stomach Mucosa	stomach
39	chr14:68604200-68614800	Enhancers	NHLF	lung
40	chr14:68604400-68609800	Weak transcription	Brain Angular Gyrus	brain
41	chr14:68604400-68613200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:68604600-68606200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:68604600-68606600	Weak transcription	Adipose Nuclei	Adipose
44	chr14:68604600-68608800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr14:68604600-68609200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr14:68604600-68609600	Weak transcription	Lung	lung
47	chr14:68604800-68606200	Weak transcription	Brain Anterior Caudate	brain
48	chr14:68604800-68606200	Weak transcription	Brain Germinal Matrix	brain
49	chr14:68604800-68606200	Weak transcription	Esophagus	oesophagus
50	chr14:68604800-68606200	Weak transcription	Fetal Muscle Trunk	muscle

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