Variant report

Variant	rs2588813
Chromosome Location	chr14:68650014-68650015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68635724..68652229-chr14:68652309..68662207,28	MCF-7	breast:
2	chr14:68646641..68650349-chr14:69255311..69259925,5	MCF-7	breast:
3	chr14:68637477..68641965-chr14:68646902..68653784,8	MCF-7	breast:
4	chr14:68405746..68408665-chr14:68647500..68650644,3	MCF-7	breast:
5	chr14:68629394..68631878-chr14:68649485..68651925,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1022978	0.91[EUR][1000 genomes]
rs12437043	0.86[AMR][1000 genomes]
rs1274656	0.81[CEU][hapmap]
rs12894297	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1467673	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1555944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555945	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17104908	0.84[CEU][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1952245	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1952246	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1958111	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1958112	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]
rs1958113	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1958115	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1958116	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1980850	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2038979	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2243905	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2254173	0.86[EUR][1000 genomes]
rs2478777	0.93[EUR][1000 genomes]
rs2588806	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2588807	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2588808	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2588814	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2588815	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2588816	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2588818	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2588819	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2588820	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2588821	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2588823	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2588824	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588825	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588826	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588827	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs2588828	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588829	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588830	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2588831	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2588832	0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2588833	0.84[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2588834	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2588835	0.87[AMR][1000 genomes]
rs2767365	0.80[EUR][1000 genomes]
rs2767366	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2767367	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2767368	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2767377	0.81[AMR][1000 genomes]
rs2767379	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2767382	0.90[EUR][1000 genomes]
rs2767383	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2767384	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs365934	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs372143	0.84[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs373918	0.84[CEU][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs378408	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs401021	0.84[CEU][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs408156	0.87[YRI][hapmap]
rs411547	0.84[CEU][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs424032	0.92[AMR][1000 genomes]
rs431649	0.84[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs435620	0.83[CEU][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs437585	0.84[CEU][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs448445	0.84[CEU][hapmap]
rs6573817	1.00[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]
rs7141160	0.84[CEU][hapmap]
rs7141450	0.83[CEU][hapmap]
rs7156822	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8011527	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959039	0.92[EUR][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:35 , 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	chr14:68645000-68651000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:68645000-68655600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:68646000-68650800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:68646600-68651000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:68646600-68655200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:68647000-68676600	Weak transcription	Primary B cells from cord blood	blood
9	chr14:68647800-68651600	Enhancers	Primary T cells from cord blood	blood
10	chr14:68648000-68650200	Enhancers	Thymus	Thymus
11	chr14:68648000-68650200	Flanking Active TSS	GM12878-XiMat	blood
12	chr14:68648000-68651400	Enhancers	Fetal Thymus	thymus
13	chr14:68648600-68659600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:68648800-68650200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:68648800-68650200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:68649000-68659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:68649200-68650400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:68649200-68652600	Weak transcription	HSMMtube	muscle
19	chr14:68649400-68652800	Weak transcription	NH-A	brain
20	chr14:68649400-68655000	Weak transcription	Fetal Intestine Large	intestine
21	chr14:68649400-68658000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:68649400-68677000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:68649600-68650800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:68649600-68651000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:68649600-68652600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:68649600-68652800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:68649600-68657200	Weak transcription	Fetal Lung	lung
28	chr14:68649800-68650200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:68649800-68651200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:68649800-68651400	Weak transcription	A549	lung
31	chr14:68649800-68652400	Weak transcription	NHDF-Ad	bronchial
32	chr14:68649800-68652600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:68649800-68660400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:68650000-68650600	Weak transcription	Stomach Mucosa	stomach
35	chr14:68650000-68660800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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