Variant report

Variant	rs2247499
Chromosome Location	chr15:57618634-57618635
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17819964	1.00[JPT][hapmap]
rs2243451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2244509	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2244772	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247485	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247501	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2248205	0.81[ASN][1000 genomes]
rs2249219	1.00[JPT][hapmap]
rs2440943	1.00[JPT][hapmap]
rs4238323	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493912	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57605000-57619400	Weak transcription	Pancreas	Pancrea
2	chr15:57611400-57620600	Enhancers	Fetal Intestine Small	intestine
3	chr15:57612800-57619400	Weak transcription	Fetal Lung	lung
4	chr15:57613000-57626800	Weak transcription	Right Atrium	heart
5	chr15:57613000-57635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:57613200-57619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:57613200-57619400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:57613400-57619200	Weak transcription	NH-A	brain
9	chr15:57613600-57619000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:57614600-57621800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:57615200-57619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:57615600-57619200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:57616200-57619400	Weak transcription	NHDF-Ad	bronchial
14	chr15:57616200-57620000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:57616200-57622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:57616200-57624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:57616200-57624800	Weak transcription	Lung	lung
18	chr15:57616400-57618800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:57616400-57619000	Weak transcription	HSMM	muscle
20	chr15:57616400-57619200	Weak transcription	NHLF	lung
21	chr15:57616400-57619200	Weak transcription	Osteobl	bone
22	chr15:57616400-57619800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:57616400-57619800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:57616400-57620400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:57616400-57620400	Weak transcription	Placenta	Placenta
26	chr15:57616600-57618800	Enhancers	Duodenum Mucosa	Duodenum
27	chr15:57616800-57621400	Enhancers	Fetal Intestine Large	intestine
28	chr15:57617200-57619800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:57617200-57620000	Enhancers	K562	blood
30	chr15:57617200-57620200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr15:57617200-57622400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:57617200-57622400	Weak transcription	Hela-S3	cervix
33	chr15:57617600-57619200	Weak transcription	Stomach Mucosa	stomach
34	chr15:57617600-57624800	Enhancers	Fetal Muscle Leg	muscle
35	chr15:57617600-57625800	Weak transcription	A549	lung
36	chr15:57617800-57619200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:57617800-57622200	Weak transcription	Fetal Thymus	thymus
38	chr15:57618400-57618800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr15:57618400-57619600	Enhancers	HepG2	liver
40	chr15:57618600-57618800	Enhancers	HSMMtube	muscle
41	chr15:57618600-57619000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr15:57618600-57619400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr15:57618600-57632000	Weak transcription	Spleen	Spleen

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