Variant report

Variant	rs2414607
Chromosome Location	chr15:59023215-59023216
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59021784..59023726-chr15:59040187..59042345,2	K562	blood:
2	chr15:59022433..59024447-chr15:59041685..59043916,2	K562	blood:
3	chr15:59023017..59026002-chr15:59026211..59028184,2	K562	blood:
4	chr15:59021059..59023749-chr15:59034779..59037397,2	K562	blood:

Variant related genes	Relation type
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11071396	0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11852241	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12437552	0.92[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1427280	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs17236243	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2081703	0.82[LWK][hapmap]
rs2114573	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2414606	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28391588	0.84[CEU][hapmap];0.96[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes]
rs3933541	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs394845	0.91[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs447299	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4774309	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs655348	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs681711	0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs694335	0.91[CHB][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs7164954	0.80[AMR][1000 genomes]
rs7168275	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7170538	0.81[TSI][hapmap]
rs7173286	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7176436	0.96[GIH][hapmap];0.90[JPT][hapmap]
rs7179724	0.92[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes]
rs7182060	0.95[CHB][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap]
rs7183504	0.91[AMR][1000 genomes]
rs8023706	0.85[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8027998	0.84[CEU][hapmap];0.96[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes]
rs8036097	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9646204	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:58990000-59023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:58992000-59023800	Weak transcription	Aorta	Aorta
4	chr15:58999000-59023800	Weak transcription	Gastric	stomach
5	chr15:59005600-59023600	Weak transcription	NHEK	skin
6	chr15:59005800-59025200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:59006200-59023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:59006200-59024000	Weak transcription	Pancreas	Pancrea
9	chr15:59007400-59026400	Weak transcription	Fetal Intestine Large	intestine
10	chr15:59008600-59028400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:59009600-59029600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:59009800-59035400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:59010200-59024000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:59010200-59024200	Weak transcription	HepG2	liver
15	chr15:59010800-59031200	Weak transcription	Dnd41	blood
16	chr15:59011200-59023800	Weak transcription	Hela-S3	cervix
17	chr15:59013200-59030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:59013400-59024000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:59013400-59029800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:59015000-59024200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:59016800-59025000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:59016800-59034200	Weak transcription	Brain Germinal Matrix	brain
23	chr15:59017000-59023800	Weak transcription	Fetal Heart	heart
24	chr15:59017000-59024000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:59017200-59023400	Weak transcription	Brain Anterior Caudate	brain
26	chr15:59017200-59023600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:59017200-59023600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:59017200-59023600	Weak transcription	Stomach Mucosa	stomach
29	chr15:59017200-59023800	Weak transcription	Adipose Nuclei	Adipose
30	chr15:59017200-59023800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:59017200-59023800	Weak transcription	K562	blood
32	chr15:59017200-59023800	Weak transcription	NH-A	brain
33	chr15:59017200-59027400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:59017200-59034400	Weak transcription	Fetal Kidney	kidney
35	chr15:59017400-59023800	Weak transcription	Right Ventricle	heart
36	chr15:59017400-59023800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:59017400-59024000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:59017400-59024000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:59017400-59024000	Weak transcription	Small Intestine	intestine
40	chr15:59017400-59029000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr15:59018200-59023800	Weak transcription	NHLF	lung
42	chr15:59018400-59023600	Weak transcription	Osteobl	bone
43	chr15:59018400-59023800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:59018800-59023800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:59019000-59023800	Weak transcription	A549	lung
46	chr15:59019000-59023800	Weak transcription	NHDF-Ad	bronchial
47	chr15:59019400-59024200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:59019800-59023600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:59019800-59024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:59020000-59023400	Weak transcription	Primary monocytes fromperipheralblood	blood

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