Variant report

Variant	rs2290342
Chromosome Location	chr15:55635559-55635560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55635158..55636900-chr15:55648731..55651543,2	MCF-7	breast:
2	chr15:55634405..55635985-chr15:55636051..55638433,2	MCF-7	breast:
3	chr15:55607488..55610247-chr15:55633602..55635929,2	K562	blood:
4	chr15:55608305..55611231-chr15:55633798..55636486,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069943	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7162274	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv904243	chr15:55627528-55734158	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 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	chr15:55611800-55640000	Weak transcription	Gastric	stomach
2	chr15:55611800-55699400	Weak transcription	Colonic Mucosa	Colon
3	chr15:55612000-55636000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:55612000-55636000	Weak transcription	Brain Germinal Matrix	brain
5	chr15:55612000-55636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:55612000-55665000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:55612000-55671000	Weak transcription	Right Ventricle	heart
8	chr15:55612000-55671000	Weak transcription	Small Intestine	intestine
9	chr15:55612400-55635600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:55612600-55640400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:55612600-55650200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:55612600-55663600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:55612600-55675600	Weak transcription	Aorta	Aorta
14	chr15:55612800-55635800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:55612800-55640400	Weak transcription	NHLF	lung
16	chr15:55612800-55649600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr15:55612800-55677600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:55614800-55649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:55617000-55635600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:55619600-55640000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:55619800-55636000	Weak transcription	HMEC	breast
22	chr15:55619800-55637600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr15:55620400-55658000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:55620800-55636800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:55621600-55636800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr15:55623000-55652600	Weak transcription	Psoas Muscle	Psoas
27	chr15:55623400-55642200	Weak transcription	Hela-S3	cervix
28	chr15:55623600-55635600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:55623600-55636000	Weak transcription	NHDF-Ad	bronchial
30	chr15:55623800-55635600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:55623800-55660200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:55624000-55635800	Weak transcription	NHEK	skin
33	chr15:55624000-55642800	Weak transcription	Esophagus	oesophagus
34	chr15:55624200-55640400	Weak transcription	Spleen	Spleen
35	chr15:55625000-55636600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:55625200-55639000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:55625200-55643000	Strong transcription	Primary T cells from cord blood	blood
38	chr15:55625800-55637000	Strong transcription	Primary B cells from cord blood	blood
39	chr15:55626000-55636600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:55626000-55649600	Weak transcription	HUVEC	blood vessel
41	chr15:55627000-55636000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr15:55627600-55635600	Weak transcription	Brain Anterior Caudate	brain
43	chr15:55628400-55636400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:55628400-55639800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr15:55628600-55647800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr15:55628800-55636200	Weak transcription	Fetal Heart	heart
47	chr15:55628800-55636400	Weak transcription	K562	blood
48	chr15:55629000-55636400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:55629400-55636400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr15:55629800-55640200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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