Variant report

Variant	rs1274653
Chromosome Location	chr14:68676778-68676779
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68630159..68635177-chr14:68676158..68679265,4	MCF-7	breast:
2	chr14:68658576..68662447-chr14:68675524..68680933,7	MCF-7	breast:
3	chr14:68651948..68653688-chr14:68676457..68678591,2	MCF-7	breast:
4	chr14:68676342..68679181-chr14:69280243..69283048,2	MCF-7	breast:
5	chr14:68631219..68633531-chr14:68676403..68678551,2	MCF-7	breast:
6	chr14:68675578..68678555-chr14:69257522..69262810,5	MCF-7	breast:
7	chr14:68669045..68674295-chr14:68676334..68681130,6	MCF-7	breast:
8	chr14:68608519..68611286-chr14:68675156..68679124,3	MCF-7	breast:
9	chr14:68399385..68401473-chr14:68675864..68677382,2	MCF-7	breast:
10	chr14:68675359..68680545-chr14:68694673..68700591,7	MCF-7	breast:
11	chr14:68664407..68668795-chr14:68676202..68680269,4	MCF-7	breast:
12	chr14:68676010..68678265-chr14:68685689..68687728,2	MCF-7	breast:
13	chr14:68676724..68679537-chr14:68695696..68698941,3	MCF-7	breast:
14	chr14:68604554..68607336-chr14:68675149..68677760,3	MCF-7	breast:
15	chr14:68674848..68680641-chr14:69259721..69263504,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1022978	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1028842	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1080321	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11628885	0.92[EUR][1000 genomes]
rs12432006	0.85[ASN][1000 genomes]
rs1274637	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274638	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274639	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274640	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274641	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274642	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274643	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274644	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274645	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274646	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274647	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274649	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274650	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274651	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274654	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274655	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274656	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274657	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274658	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274659	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274661	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894297	1.00[ASN][1000 genomes]
rs1290939	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1295780	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295781	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295782	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1296527	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1298340	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1299581	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314911	0.97[EUR][1000 genomes]
rs1314912	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314913	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314914	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314915	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314916	0.93[EUR][1000 genomes]
rs1314918	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314919	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314921	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1315984	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1316014	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1316118	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1316170	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1467673	1.00[ASN][1000 genomes]
rs1536455	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555945	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17105269	0.90[EUR][1000 genomes]
rs1744947	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744949	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744959	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1751381	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1751382	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951631	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1952245	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1958111	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1958113	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1958116	1.00[ASN][1000 genomes]
rs1980850	1.00[ASN][1000 genomes]
rs2038979	1.00[ASN][1000 genomes]
rs2243905	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2254173	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478777	0.93[ASN][1000 genomes]
rs2588806	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2588807	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2588808	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2588809	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588814	1.00[ASN][1000 genomes]
rs2588815	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2588816	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2588818	1.00[ASN][1000 genomes]
rs2588819	1.00[ASN][1000 genomes]
rs2588820	1.00[ASN][1000 genomes]
rs2588821	0.87[ASN][1000 genomes]
rs2588823	1.00[ASN][1000 genomes]
rs2588824	1.00[ASN][1000 genomes]
rs2588825	1.00[ASN][1000 genomes]
rs2588826	1.00[ASN][1000 genomes]
rs2588828	1.00[ASN][1000 genomes]
rs2588829	1.00[ASN][1000 genomes]
rs2588834	0.86[ASN][1000 genomes]
rs2767365	0.86[ASN][1000 genomes]
rs2767377	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767378	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767379	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2767383	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2767384	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34409637	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs419450	0.86[ASN][1000 genomes]
rs440627	0.80[ASN][1000 genomes]
rs445921	0.86[ASN][1000 genomes]
rs448445	0.86[ASN][1000 genomes]
rs7155764	0.82[EUR][1000 genomes]
rs725453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959039	0.81[AMR][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	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68649400-68677000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68672800-68676800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:68674000-68677000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:68674000-68677200	Enhancers	Osteobl	bone
5	chr14:68674000-68679200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:68674200-68677000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:68674200-68677000	Enhancers	NHDF-Ad	bronchial
8	chr14:68674200-68677200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:68674400-68677000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:68674400-68677000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr14:68674800-68677000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:68674800-68677000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:68674800-68677200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:68675000-68677000	Enhancers	Primary T cells from cord blood	blood
15	chr14:68675000-68677000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:68675000-68677000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:68675000-68677000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:68675000-68677000	Enhancers	Rectal Smooth Muscle	rectum
19	chr14:68675000-68677200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr14:68675000-68677200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:68675000-68677200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:68675000-68677200	Enhancers	Fetal Thymus	thymus
23	chr14:68675000-68677200	Enhancers	NHLF	lung
24	chr14:68675000-68677400	Enhancers	Small Intestine	intestine
25	chr14:68675000-68678000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:68675000-68679200	Enhancers	Fetal Muscle Leg	muscle
27	chr14:68675200-68677000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr14:68675200-68677000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr14:68675200-68677000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:68675200-68677000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:68675200-68677000	Weak transcription	NH-A	brain
32	chr14:68675200-68677200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:68675200-68677200	Weak transcription	Adipose Nuclei	Adipose
34	chr14:68675200-68677200	Enhancers	Thymus	Thymus
35	chr14:68675200-68678000	Enhancers	Aorta	Aorta
36	chr14:68675400-68676800	Weak transcription	HSMMtube	muscle
37	chr14:68675400-68677200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:68675400-68677200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:68675400-68677200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr14:68675400-68677200	Enhancers	Right Atrium	heart
41	chr14:68675400-68677200	Weak transcription	A549	lung
42	chr14:68675400-68683600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:68675400-68690200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:68675600-68676800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:68675600-68676800	Enhancers	Dnd41	blood
46	chr14:68675600-68677200	Enhancers	Primary B cells from peripheral blood	blood
47	chr14:68675600-68677200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr14:68675600-68677200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:68675600-68677200	Enhancers	Psoas Muscle	Psoas
50	chr14:68675600-68677200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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