Variant report

Variant	rs2588818
Chromosome Location	chr14:68630578-68630579
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68630532..68635204-chr14:68697159..68701180,5	MCF-7	breast:
2	chr14:68628721..68630702-chr14:68634152..68636698,2	MCF-7	breast:
3	chr14:68628675..68631095-chr14:68697947..68699547,2	K562	blood:
4	chr14:68629394..68631878-chr14:68649485..68651925,2	MCF-7	breast:
5	chr14:68629386..68636406-chr14:68656636..68661805,14	MCF-7	breast:
6	chr14:68606462..68608826-chr14:68629995..68632685,3	MCF-7	breast:
7	chr14:68630093..68632260-chr14:69253853..69256303,2	MCF-7	breast:
8	chr14:68630159..68635177-chr14:68676158..68679265,4	MCF-7	breast:

No data

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1022978	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028842	1.00[CHB][hapmap];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];1.00[ASN][1000 genomes]
rs1274638	1.00[CHB][hapmap];1.00[JPT][hapmap];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];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];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	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];1.00[ASN][1000 genomes]
rs1274653	1.00[ASN][1000 genomes]
rs1274654	1.00[ASN][1000 genomes]
rs1274655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274656	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.89[AMR][1000 genomes];0.95[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];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];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536455	1.00[ASN][1000 genomes]
rs1555944	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1555945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104908	0.84[CEU][hapmap];0.82[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	0.87[AMR][1000 genomes];0.84[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];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952246	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs1958111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958112	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1958113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958115	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs1958116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038979	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254173	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255767	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2478777	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2588806	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]
rs2588807	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]
rs2588808	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[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];0.92[EUR][1000 genomes]
rs2588814	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588819	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588820	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2588823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588824	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588825	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]
rs2588826	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588827	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs2588828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588829	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588830	0.89[EUR][1000 genomes]
rs2588831	0.80[EUR][1000 genomes]
rs2588833	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2588834	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767368	0.94[CEU][hapmap];0.92[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];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767382	0.97[EUR][1000 genomes]
rs2767383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34409637	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs365934	0.82[EUR][1000 genomes]
rs372143	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs373918	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs378408	0.82[EUR][1000 genomes]
rs401021	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs411547	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs419450	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs431649	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs435620	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs437585	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs440627	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs445921	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs448445	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573817	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7141160	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7141450	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7155764	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs725453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8011527	0.92[EUR][1000 genomes]
rs8014524	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs959039	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1048794	chr14:68614152-68649231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68613000-68631200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:68621400-68631000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:68623000-68630600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:68623000-68631000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:68625000-68631200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:68625000-68635600	Weak transcription	HSMM	muscle
7	chr14:68625200-68631200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:68625200-68631200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:68625200-68635000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:68625200-68636800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:68625600-68630800	Weak transcription	HepG2	liver
12	chr14:68625600-68631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:68625800-68631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:68627200-68631200	Weak transcription	Psoas Muscle	Psoas
15	chr14:68627800-68631200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:68628200-68631200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:68628400-68632000	Weak transcription	Aorta	Aorta
18	chr14:68628800-68630800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:68629000-68630600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:68629000-68631000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:68629600-68631200	Enhancers	Liver	Liver
22	chr14:68629600-68631200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr14:68629600-68632400	Enhancers	Fetal Kidney	kidney
24	chr14:68629600-68632800	Enhancers	Colon Smooth Muscle	Colon
25	chr14:68629600-68633400	Enhancers	Rectal Smooth Muscle	rectum
26	chr14:68629600-68642200	Enhancers	Fetal Intestine Large	intestine
27	chr14:68629600-68642400	Enhancers	Fetal Intestine Small	intestine
28	chr14:68629800-68631000	Enhancers	A549	lung
29	chr14:68629800-68632800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:68630000-68630600	Enhancers	Fetal Stomach	stomach
31	chr14:68630000-68632600	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:68630000-68632600	Enhancers	Fetal Lung	lung
33	chr14:68630200-68630600	Weak transcription	Stomach Mucosa	stomach
34	chr14:68630400-68632800	Enhancers	Ovary	ovary
35	chr14:68630400-68636400	Weak transcription	Small Intestine	intestine

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