Variant report

Variant	rs2254011
Chromosome Location	chr5:14866392-14866393
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14863140..14869148-chr5:14869858..14873392,6	MCF-7	breast:
2	chr5:14857323..14860258-chr5:14864788..14866500,2	MCF-7	breast:
3	chr5:14765384..14768223-chr5:14864661..14866800,2	MCF-7	breast:
4	chr5:14863860..14866794-chr5:14868598..14871601,3	K562	blood:
5	chr5:14864911..14869985-chr5:14870388..14873560,6	K562	blood:

Variant related genes	Relation type
ENSG00000272057	Chromatin interaction
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2250476	1.00[EUR][1000 genomes]
rs2250590	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2250599	1.00[EUR][1000 genomes]
rs2250600	1.00[EUR][1000 genomes]
rs2250628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2250716	1.00[EUR][1000 genomes]
rs2642681	1.00[EUR][1000 genomes]
rs923959	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14824800-14869600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:14830400-14866400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:14831000-14870400	Weak transcription	Spleen	Spleen
4	chr5:14835600-14869000	Weak transcription	NHDF-Ad	bronchial
5	chr5:14837400-14869400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:14844800-14869200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:14848800-14870000	Weak transcription	Thymus	Thymus
8	chr5:14849200-14869800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:14850800-14869000	Weak transcription	Brain Germinal Matrix	brain
10	chr5:14851600-14869800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:14853200-14869000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:14855400-14868800	Weak transcription	Hela-S3	cervix
13	chr5:14855400-14870000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:14855400-14870000	Weak transcription	Placenta	Placenta
15	chr5:14856600-14869000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:14857400-14869000	Weak transcription	Primary T cells from cord blood	blood
17	chr5:14860400-14868800	Weak transcription	Dnd41	blood
18	chr5:14860800-14869200	Weak transcription	HMEC	breast
19	chr5:14860800-14869400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:14861800-14869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:14861800-14870400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:14862000-14869200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:14862000-14869400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:14862200-14868800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:14862400-14868800	Weak transcription	Adipose Nuclei	Adipose
26	chr5:14863000-14868000	Weak transcription	Fetal Intestine Large	intestine
27	chr5:14863000-14868000	Weak transcription	Osteobl	bone
28	chr5:14863200-14868200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:14863200-14868800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:14863400-14868400	Weak transcription	Fetal Intestine Small	intestine
31	chr5:14863600-14868600	Weak transcription	Liver	Liver
32	chr5:14863600-14868800	Weak transcription	Right Atrium	heart
33	chr5:14863600-14869000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:14863800-14868600	Weak transcription	Stomach Mucosa	stomach
35	chr5:14863800-14868800	Weak transcription	Fetal Brain Female	brain
36	chr5:14863800-14868800	Weak transcription	Right Ventricle	heart
37	chr5:14864000-14868400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:14864000-14868600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:14864000-14868600	Weak transcription	HepG2	liver
40	chr5:14864200-14869200	Weak transcription	Aorta	Aorta
41	chr5:14864200-14870000	Weak transcription	Pancreas	Pancrea
42	chr5:14864800-14868000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:14864800-14869000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:14864800-14869000	Weak transcription	Brain Angular Gyrus	brain
45	chr5:14864800-14869000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:14865000-14866400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:14865000-14868600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:14865000-14868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:14865000-14869000	Weak transcription	Brain Anterior Caudate	brain
50	chr5:14865200-14868200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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