Variant report

Variant	rs2588806
Chromosome Location	chr14:68657405-68657406
allele	A/T
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68409262..68413026-chr14:68656289..68660234,5	MCF-7	breast:
2	chr14:68629386..68636406-chr14:68656636..68661805,14	MCF-7	breast:
3	chr14:68656552..68658635-chr14:68660275..68661944,3	MCF-7	breast:
4	chr14:68657222..68663496-chr14:68695468..68701015,13	MCF-7	breast:
5	chr14:68635724..68652229-chr14:68652309..68662207,28	MCF-7	breast:
6	chr14:68554904..68556745-chr14:68657326..68660228,3	MCF-7	breast:
7	chr14:68610783..68613857-chr14:68656944..68660243,4	MCF-7	breast:
8	chr14:68655604..68658456-chr14:68831451..68833713,2	MCF-7	breast:
9	chr14:68602495..68610533-chr14:68655867..68660749,19	MCF-7	breast:
10	chr14:68631283..68635497-chr14:68656962..68661024,3	MCF-7	breast:
11	chr14:68656043..68661099-chr14:68710391..68716081,7	MCF-7	breast:
12	chr14:68637720..68641330-chr14:68657106..68660003,5	MCF-7	breast:
13	chr14:68657173..68659585-chr14:68681483..68683101,2	MCF-7	breast:
14	chr14:68642568..68644686-chr14:68655694..68658682,2	MCF-7	breast:
15	chr14:68615352..68617633-chr14:68655816..68658975,3	MCF-7	breast:
16	chr14:68657329..68659380-chr14:69264255..69267196,2	MCF-7	breast:
17	chr14:68404009..68415107-chr14:68656381..68664155,17	MCF-7	breast:
18	chr14:68433451..68436244-chr14:68656284..68658586,2	MCF-7	breast:
19	chr14:68656551..68662158-chr14:69259506..69264057,11	MCF-7	breast:
20	chr14:68610876..68614482-chr14:68656921..68659073,4	MCF-7	breast:
21	chr14:68644898..68647865-chr14:68656989..68659986,2	K562	blood:
22	chr14:68601506..68610081-chr14:68654290..68661321,21	MCF-7	breast:
23	chr14:68407164..68408664-chr14:68656866..68659187,2	MCF-7	breast:
24	chr14:68655659..68659360-chr14:69256551..69258776,5	MCF-7	breast:
25	chr14:68656896..68664157-chr14:69254996..69262940,23	MCF-7	breast:
26	chr14:68657382..68663307-chr14:68771021..68776308,9	MCF-7	breast:
27	chr14:68656816..68658573-chr14:68879129..68882027,2	MCF-7	breast:
28	chr14:68431871..68434787-chr14:68656702..68659683,2	MCF-7	breast:
29	chr14:68624965..68627608-chr14:68656572..68658244,2	MCF-7	breast:
30	chr14:68657209..68659073-chr14:68869497..68871337,2	MCF-7	breast:
31	chr14:68656976..68658957-chr14:68924252..68926500,2	MCF-7	breast:
32	chr14:68656774..68658539-chr14:69251290..69253166,2	MCF-7	breast:
33	chr14:68656161..68657684-chr14:68695768..68697616,2	MCF-7	breast:
34	chr14:68655074..68665772-chr14:68705598..68717948,30	MCF-7	breast:
35	chr14:68549312..68551959-chr14:68656938..68660487,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000244677	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1022978	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028842	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1080321	0.86[ASN][1000 genomes]
rs12432006	0.85[ASN][1000 genomes]
rs1274637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274639	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274641	1.00[ASN][1000 genomes]
rs1274642	1.00[ASN][1000 genomes]
rs1274643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274644	1.00[ASN][1000 genomes]
rs1274645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274647	1.00[ASN][1000 genomes]
rs1274648	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274649	1.00[ASN][1000 genomes]
rs1274650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274651	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274653	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274654	1.00[ASN][1000 genomes]
rs1274655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274656	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274657	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274658	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274659	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274661	1.00[ASN][1000 genomes]
rs12894297	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1295780	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1295781	1.00[ASN][1000 genomes]
rs1295782	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1296527	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1298340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1299581	1.00[ASN][1000 genomes]
rs1314912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314919	0.86[ASN][1000 genomes]
rs1315984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1316014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1316118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1316170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1467673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536455	1.00[ASN][1000 genomes]
rs1555944	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1555945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104908	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs17105269	1.00[JPT][hapmap]
rs1744947	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1744949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1744959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1751381	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1751382	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1951410	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1951631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1952245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952246	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs1958111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958112	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1958113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958115	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs1958116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038979	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254173	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2478777	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2588807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588808	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2588813	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2588814	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588819	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588820	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2588823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588824	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588826	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588827	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs2588828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588829	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588830	0.88[EUR][1000 genomes]
rs2588833	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2588834	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767368	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs2767377	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2767378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2767379	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767382	0.96[EUR][1000 genomes]
rs2767383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34409637	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs365934	0.81[EUR][1000 genomes]
rs372143	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs373918	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs378408	0.81[EUR][1000 genomes]
rs401021	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs411547	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs419450	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs431649	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs435620	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs437585	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs440627	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs445921	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs448445	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573817	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7141160	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7141450	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7155764	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs725453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8011527	0.91[EUR][1000 genomes]
rs8014524	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs959039	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68641400-68658000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:68642400-68659800	Weak transcription	Pancreas	Pancrea
3	chr14:68647000-68676600	Weak transcription	Primary B cells from cord blood	blood
4	chr14:68648600-68659600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:68649000-68659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:68649400-68658000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:68649400-68677000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:68649800-68660400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:68650000-68660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:68651200-68675000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:68653000-68658200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:68653600-68658200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:68654000-68658200	Weak transcription	HSMMtube	muscle
14	chr14:68655400-68658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:68655400-68662400	Enhancers	Fetal Intestine Small	intestine
16	chr14:68655600-68659400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:68655600-68659400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:68655600-68660000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:68655800-68658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:68655800-68659600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:68655800-68660000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:68655800-68661000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:68656400-68658600	Enhancers	Fetal Intestine Large	intestine
24	chr14:68656800-68662600	Enhancers	HepG2	liver
25	chr14:68657000-68657600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:68657200-68659000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr14:68657200-68661400	Enhancers	Fetal Lung	lung
28	chr14:68657200-68661800	Enhancers	Liver	Liver
29	chr14:68657200-68662400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr14:68657400-68657800	Weak transcription	Stomach Mucosa	stomach
31	chr14:68657400-68657800	Enhancers	A549	lung

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