Variant report

Variant	rs2288474
Chromosome Location	chr5:14741984-14741985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14737424..14739316-chr5:14739393..14742140,3	MCF-7	breast:
2	chr5:14736697..14739348-chr5:14739684..14742624,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13170282	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs13182007	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs149391	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs149554	0.95[ASN][1000 genomes]
rs152363	0.81[CHB][hapmap]
rs152364	0.95[ASN][1000 genomes]
rs153920	0.91[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs153927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs153928	0.95[ASN][1000 genomes]
rs153929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs153930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs153931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs153932	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs153933	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs1679140	0.91[ASN][1000 genomes]
rs16903680	1.00[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16903681	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs16903692	0.81[CHB][hapmap]
rs16903693	0.84[CHB][hapmap]
rs192218	0.94[ASN][1000 genomes]
rs34106421	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35628922	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35825720	0.90[EUR][1000 genomes]
rs35971379	0.94[ASN][1000 genomes]
rs35976559	0.89[AMR][1000 genomes]
rs4702046	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4702047	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs4702048	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs6864641	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs6895129	0.91[ASN][1000 genomes]
rs696035	0.94[ASN][1000 genomes]
rs696294	0.81[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap]
rs696295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs697566	0.94[ASN][1000 genomes]
rs697567	0.91[ASN][1000 genomes]
rs697568	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs697569	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs7734375	0.91[ASN][1000 genomes]
rs875525	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs891051	0.92[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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14715000-14744200	Weak transcription	GM12878-XiMat	blood
2	chr5:14725400-14758600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:14725800-14745400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:14727000-14745600	Weak transcription	Placenta	Placenta
5	chr5:14727200-14742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:14727200-14748000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:14727200-14757000	Weak transcription	NHLF	lung
8	chr5:14728000-14743600	Weak transcription	HSMMtube	muscle
9	chr5:14728000-14745000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:14728800-14745600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:14729200-14742200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
13	chr5:14729600-14752600	Strong transcription	Fetal Intestine Large	intestine
14	chr5:14729800-14749400	Strong transcription	Fetal Intestine Small	intestine
15	chr5:14730000-14758400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr5:14732200-14742600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:14733000-14744000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:14733400-14750600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:14733400-14753000	Weak transcription	Fetal Brain Male	brain
20	chr5:14736400-14742000	Strong transcription	Primary T cells from cord blood	blood
21	chr5:14736400-14746200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:14736600-14752200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr5:14736600-14760000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:14736800-14742200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr5:14736800-14752800	Weak transcription	A549	lung
26	chr5:14736800-14753800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr5:14736800-14757400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr5:14737000-14744800	Weak transcription	Pancreas	Pancrea
29	chr5:14737000-14754200	Strong transcription	Liver	Liver
30	chr5:14737600-14742400	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:14737800-14742200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:14737800-14742200	Strong transcription	Ovary	ovary
33	chr5:14737800-14744400	Weak transcription	Spleen	Spleen
34	chr5:14737800-14744600	Strong transcription	Hela-S3	cervix
35	chr5:14737800-14759200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:14737800-14759400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:14738000-14742200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:14738200-14745400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:14738200-14746200	Weak transcription	Aorta	Aorta
40	chr5:14738200-14749400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:14739000-14742800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:14739000-14743400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:14739000-14743800	Genic enhancers	Brain Substantia Nigra	brain
44	chr5:14739600-14742400	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr5:14739600-14749200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:14739600-14753800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:14739800-14742600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:14739800-14743800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:14739800-14751200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:14740000-14742400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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