Variant report

Variant	rs2588816
Chromosome Location	chr14:68636597-68636598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68630944..68632951-chr14:68635670..68637277,2	MCF-7	breast:
2	chr14:68635724..68652229-chr14:68652309..68662207,28	MCF-7	breast:
3	chr14:68628721..68630702-chr14:68634152..68636698,2	MCF-7	breast:
4	chr14:68632963..68636624-chr14:69255209..69259265,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

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

rs_ID	r²[population]
rs1022978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];1.00[ASN][1000 genomes]
rs1274638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[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];0.81[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];0.81[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	0.81[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];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274653	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274654	1.00[ASN][1000 genomes]
rs1274655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274656	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[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	0.91[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];0.81[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];0.89[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];0.97[AFR][1000 genomes];1.00[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	0.89[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];1.00[AFR][1000 genomes];1.00[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];0.92[AFR][1000 genomes];1.00[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];0.81[AFR][1000 genomes];1.00[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];0.88[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];0.91[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];0.92[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2478777	0.85[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];0.93[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];0.93[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];0.89[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];0.92[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588818	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];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588820	0.91[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];0.89[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];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588824	0.91[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];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588826	0.91[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];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588829	0.88[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];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[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];0.93[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];0.97[AFR][1000 genomes];1.00[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];0.95[AFR][1000 genomes];1.00[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	0.89[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	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs445921	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs448445	0.84[CEU][hapmap];0.92[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];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7141450	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[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];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8011527	0.92[EUR][1000 genomes]
rs8014524	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs959039	1.00[AFR][1000 genomes];1.00[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68625200-68636800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68629600-68642200	Enhancers	Fetal Intestine Large	intestine
3	chr14:68629600-68642400	Enhancers	Fetal Intestine Small	intestine
4	chr14:68630600-68642400	Enhancers	Stomach Mucosa	stomach
5	chr14:68631800-68637000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:68632400-68641200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr14:68632800-68637600	Enhancers	A549	lung
8	chr14:68632800-68639400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:68634000-68637800	Enhancers	Colon Smooth Muscle	Colon
10	chr14:68634400-68638200	Enhancers	Rectal Smooth Muscle	rectum
11	chr14:68634400-68640200	Weak transcription	Colonic Mucosa	Colon
12	chr14:68634600-68637000	Enhancers	Fetal Lung	lung
13	chr14:68635000-68637000	Enhancers	Fetal Kidney	kidney
14	chr14:68635000-68637200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:68635000-68637600	Weak transcription	Gastric	stomach
16	chr14:68635400-68648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:68635600-68636600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr14:68635600-68637200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:68635800-68638800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:68636000-68637600	Weak transcription	Liver	Liver
21	chr14:68636000-68638800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:68636000-68638800	Weak transcription	Fetal Stomach	stomach
23	chr14:68636000-68640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:68636000-68644000	Weak transcription	Psoas Muscle	Psoas
25	chr14:68636200-68638800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:68636200-68638800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:68636200-68639000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:68636200-68644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:68636200-68648000	Weak transcription	HSMM	muscle
30	chr14:68636400-68636600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:68636400-68637000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr14:68636400-68637000	Enhancers	Small Intestine	intestine
33	chr14:68636400-68638600	Enhancers	HepG2	liver
34	chr14:68636400-68639600	Weak transcription	Ovary	ovary

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