Variant report

Variant	rs6573816
Chromosome Location	chr14:68607319-68607320
allele	C/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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68549804..68551965-chr14:68607068..68608947,2	MCF-7	breast:
2	chr14:68604504..68610375-chr14:68709920..68717829,10	MCF-7	breast:
3	chr14:68607119..68608652-chr14:68706231..68707871,2	MCF-7	breast:
4	chr14:68607251..68609680-chr14:69249832..69252803,2	MCF-7	breast:
5	chr14:68606522..68609146-chr14:68646292..68648730,3	MCF-7	breast:
6	chr14:68604670..68608287-chr14:68720771..68726254,6	MCF-7	breast:
7	chr14:68604794..68607877-chr14:68715482..68717811,3	MCF-7	breast:
8	chr14:68405207..68413374-chr14:68603625..68613921,22	MCF-7	breast:
9	chr14:68477430..68479378-chr14:68605604..68607535,2	MCF-7	breast:
10	chr14:68606603..68609632-chr14:68643322..68645400,3	MCF-7	breast:
11	chr14:68606890..68608709-chr14:68772989..68775873,2	MCF-7	breast:
12	chr14:68543487..68545559-chr14:68606941..68608872,2	MCF-7	breast:
13	chr14:68604513..68607685-chr14:69281847..69284792,3	MCF-7	breast:
14	chr14:68508469..68511778-chr14:68605587..68608728,3	MCF-7	breast:
15	chr14:68601379..68608308-chr14:69256404..69263440,24	MCF-7	breast:
16	chr14:68604795..68607491-chr14:68924394..68928105,4	MCF-7	breast:
17	chr14:68605654..68608460-chr14:68861850..68864803,2	MCF-7	breast:
18	chr14:68605789..68607754-chr14:69253022..69255684,2	MCF-7	breast:
19	chr14:68560697..68562735-chr14:68604921..68607630,2	MCF-7	breast:
20	chr14:68605825..68608678-chr14:68771583..68773389,3	MCF-7	breast:
21	chr14:68431210..68433040-chr14:68605467..68607589,3	MCF-7	breast:
22	chr14:68604583..68613347-chr14:69257128..69263457,24	MCF-7	breast:
23	chr14:68605985..68611095-chr14:68698031..68701146,7	MCF-7	breast:
24	chr14:68602495..68610533-chr14:68655867..68660749,19	MCF-7	breast:
25	chr14:68605260..68609256-chr14:68928539..68930539,3	MCF-7	breast:
26	chr14:68569098..68575378-chr14:68600721..68608879,10	MCF-7	breast:
27	chr14:68606423..68608591-chr14:69246118..69247661,2	MCF-7	breast:
28	chr14:68604115..68608838-chr14:68697064..68703970,11	MCF-7	breast:
29	chr14:68606807..68609126-chr14:68639893..68642004,2	MCF-7	breast:
30	chr14:68606462..68608826-chr14:68629995..68632685,3	MCF-7	breast:
31	chr14:68547346..68549443-chr14:68606508..68608994,2	MCF-7	breast:
32	chr14:68601506..68610081-chr14:68654290..68661321,21	MCF-7	breast:
33	chr14:68605361..68607383-chr14:68924952..68927307,3	MCF-7	breast:
34	chr14:68563027..68566553-chr14:68604012..68608205,4	MCF-7	breast:
35	chr14:68604998..68610062-chr14:68640494..68644617,7	MCF-7	breast:
36	chr14:68604940..68608294-chr14:68678371..68680438,3	MCF-7	breast:
37	chr14:68605282..68608015-chr14:68828516..68831935,3	MCF-7	breast:
38	chr14:68604554..68607336-chr14:68675149..68677760,3	MCF-7	breast:
39	chr14:68606066..68609060-chr14:68720608..68723923,4	MCF-7	breast:
40	chr14:68546114..68557712-chr14:68603959..68613316,23	MCF-7	breast:
41	chr14:68605465..68608854-chr14:68724307..68725901,3	MCF-7	breast:
42	chr14:68605640..68609689-chr14:68681508..68683618,3	MCF-7	breast:
43	chr14:68405383..68414524-chr14:68603693..68608960,22	MCF-7	breast:
44	chr14:68430411..68433270-chr14:68602747..68607900,7	MCF-7	breast:
45	chr14:68604727..68607514-chr14:68664007..68665710,2	MCF-7	breast:
46	chr14:68607279..68608954-chr14:68906773..68909021,2	MCF-7	breast:
47	chr14:68606859..68608701-chr14:68712605..68715060,2	MCF-7	breast:
48	chr14:68438169..68440796-chr14:68604712..68608303,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000243546	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10129355	0.81[JPT][hapmap]
rs10129612	0.89[JPT][hapmap]
rs10132022	0.81[JPT][hapmap]
rs10132711	0.84[JPT][hapmap]
rs10132828	0.84[JPT][hapmap]
rs10133770	0.98[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];0.93[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];0.93[YRI][hapmap];0.96[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	0.90[JPT][hapmap]
rs10137330	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137457	1.00[JPT][hapmap]
rs10137712	0.90[JPT][hapmap]
rs10139236	0.81[JPT][hapmap]
rs10139386	0.81[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	0.90[JPT][hapmap]
rs10143455	0.81[JPT][hapmap]
rs10143895	0.90[JPT][hapmap]
rs10144128	0.90[JPT][hapmap]
rs10144224	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10145197	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10146719	0.90[JPT][hapmap]
rs10146831	0.86[JPT][hapmap]
rs10147311	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]
rs10147569	0.90[JPT][hapmap]
rs10148713	1.00[EUR][1000 genomes]
rs10149801	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	0.90[JPT][hapmap]
rs10151317	0.90[JPT][hapmap]
rs1080958	0.81[JPT][hapmap]
rs10873211	0.96[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	0.90[JPT][hapmap]
rs11158719	0.81[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];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622787	0.81[JPT][hapmap]
rs11623355	0.81[JPT][hapmap]
rs11623467	0.81[JPT][hapmap]
rs11844842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[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];0.84[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11849196	0.96[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	0.81[JPT][hapmap]
rs1548264	0.81[JPT][hapmap]
rs1548265	0.81[JPT][hapmap]
rs17104786	0.90[JPT][hapmap]
rs17104793	0.89[JPT][hapmap]
rs17104796	0.90[JPT][hapmap]
rs17104799	0.89[JPT][hapmap]
rs17104823	0.90[JPT][hapmap]
rs17104824	0.90[JPT][hapmap]
rs17104827	0.90[JPT][hapmap]
rs17104829	0.90[JPT][hapmap]
rs17104862	1.00[JPT][hapmap]
rs17104863	1.00[JPT][hapmap]
rs17104880	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17104889	0.81[JPT][hapmap]
rs17104900	1.00[JPT][hapmap]
rs17104908	0.81[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];0.83[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];0.96[YRI][hapmap];0.95[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];0.97[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	0.90[JPT][hapmap]
rs1951411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1980654	0.81[JPT][hapmap]
rs1980655	0.81[JPT][hapmap]
rs2057361	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2208596	0.81[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];0.95[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];0.97[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60562079	0.93[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	0.89[JPT][hapmap]
rs6573805	0.81[JPT][hapmap]
rs6573815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145089	0.88[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];0.96[YRI][hapmap];0.95[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];0.86[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];0.93[YRI][hapmap];0.92[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];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150168	0.81[JPT][hapmap]
rs7150716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153978	0.95[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];0.97[YRI][hapmap];0.95[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];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154725	0.90[JPT][hapmap]
rs7155152	0.95[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];0.97[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7157550	0.90[JPT][hapmap]
rs7160068	0.84[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	0.91[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	0.81[JPT][hapmap]
rs8018029	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs8020512	0.90[JPT][hapmap]
rs8020795	0.81[JPT][hapmap]
rs957930	1.00[JPT][hapmap]
rs9652362	0.90[JPT][hapmap]
rs9652363	0.90[JPT][hapmap]
rs9652364	0.90[JPT][hapmap]
rs9672111	1.00[JPT][hapmap]
rs9796374	0.90[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68601800-68608800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68601800-68613600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:68601800-68614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:68601800-68614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:68601800-68615600	Enhancers	HMEC	breast
6	chr14:68602000-68607400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:68602400-68609600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:68602400-68610200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:68603400-68608800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:68603600-68608000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:68603800-68607600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:68603800-68607800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:68603800-68608400	Enhancers	Colon Smooth Muscle	Colon
14	chr14:68603800-68608600	Enhancers	Fetal Lung	lung
15	chr14:68603800-68611400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:68603800-68612400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:68603800-68612800	Enhancers	Fetal Intestine Large	intestine
18	chr14:68603800-68614000	Enhancers	Fetal Intestine Small	intestine
19	chr14:68603800-68614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:68603800-68614600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:68603800-68614800	Enhancers	HSMM	muscle
22	chr14:68604000-68607600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:68604000-68607600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr14:68604000-68608400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr14:68604000-68608800	Enhancers	Fetal Kidney	kidney
26	chr14:68604000-68609000	Enhancers	NH-A	brain
27	chr14:68604000-68611400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:68604200-68608800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:68604200-68608800	Enhancers	Stomach Mucosa	stomach
30	chr14:68604200-68614800	Enhancers	NHLF	lung
31	chr14:68604400-68609800	Weak transcription	Brain Angular Gyrus	brain
32	chr14:68604400-68613200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:68604600-68608800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr14:68604600-68609200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:68604600-68609600	Weak transcription	Lung	lung
36	chr14:68604800-68609800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:68604800-68613000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:68605000-68608600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:68605000-68609800	Weak transcription	Placenta	Placenta
40	chr14:68605000-68614800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr14:68605200-68609200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:68605200-68610200	Weak transcription	Colonic Mucosa	Colon
43	chr14:68605400-68608000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:68605600-68607400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:68605600-68608400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:68605600-68611800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:68605800-68613800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:68606200-68607400	Enhancers	Left Ventricle	heart
49	chr14:68606200-68607600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:68606200-68607600	Enhancers	Psoas Muscle	Psoas

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