Variant report

Variant	rs61999616
Chromosome Location	chr15:57616765-57616766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57596677..57601983-chr15:57611239..57618411,9	K562	blood:
2	chr15:57616601..57618515-chr15:57622221..57625785,3	MCF-7	breast:
3	chr15:57616233..57618625-chr15:57696308..57698982,2	K562	blood:
4	chr15:57616223..57618283-chr15:58356757..58358699,2	K562	blood:
5	chr15:57511091..57514268-chr15:57614646..57617765,3	K562	blood:
6	chr15:57598101..57599763-chr15:57616490..57618411,2	K562	blood:
7	chr15:57610888..57612856-chr15:57615198..57617625,2	K562	blood:
8	chr15:57615195..57617935-chr15:58470715..58472691,2	K562	blood:
9	chr15:57177826..57180634-chr15:57614648..57617463,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247982	Chromatin interaction
ENSG00000128918	Chromatin interaction
ENSG00000252984	Chromatin interaction
ENSG00000259285	Chromatin interaction
ENSG00000260172	Chromatin interaction
ENSG00000140262	Chromatin interaction

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

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

rs_ID	r²[population]
rs1007048	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459625	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11631073	0.89[ASN][1000 genomes]
rs11857206	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12906829	0.84[ASN][1000 genomes]
rs12917506	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2414501	0.82[ASN][1000 genomes]
rs4534776	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4774256	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61999617	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749248	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57599600-57617800	Weak transcription	Spleen	Spleen
2	chr15:57602800-57617000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:57605000-57619400	Weak transcription	Pancreas	Pancrea
4	chr15:57611400-57620600	Enhancers	Fetal Intestine Small	intestine
5	chr15:57612400-57617800	Enhancers	Fetal Thymus	thymus
6	chr15:57612600-57617600	Enhancers	Stomach Mucosa	stomach
7	chr15:57612800-57619400	Weak transcription	Fetal Lung	lung
8	chr15:57613000-57626800	Weak transcription	Right Atrium	heart
9	chr15:57613000-57635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:57613200-57617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:57613200-57619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:57613200-57619400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:57613400-57616800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:57613400-57619200	Weak transcription	NH-A	brain
15	chr15:57613600-57619000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:57614600-57621800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:57615000-57617400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:57615200-57619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:57615600-57617800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr15:57615600-57617800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:57615600-57619200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:57616000-57616800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr15:57616000-57617000	Weak transcription	Brain Anterior Caudate	brain
24	chr15:57616000-57617200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:57616000-57618400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:57616200-57616800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:57616200-57616800	Active TSS	A549	lung
28	chr15:57616200-57617000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:57616200-57618600	Weak transcription	HSMMtube	muscle
30	chr15:57616200-57619400	Weak transcription	NHDF-Ad	bronchial
31	chr15:57616200-57620000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:57616200-57622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:57616200-57624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:57616200-57624800	Weak transcription	Lung	lung
35	chr15:57616400-57616800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:57616400-57616800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:57616400-57616800	Weak transcription	Fetal Intestine Large	intestine
38	chr15:57616400-57616800	Enhancers	K562	blood
39	chr15:57616400-57617000	Enhancers	Fetal Brain Male	brain
40	chr15:57616400-57617200	Enhancers	Dnd41	blood
41	chr15:57616400-57617200	Enhancers	Hela-S3	cervix
42	chr15:57616400-57617200	Enhancers	NHEK	skin
43	chr15:57616400-57617400	Weak transcription	HepG2	liver
44	chr15:57616400-57617600	Weak transcription	Colonic Mucosa	Colon
45	chr15:57616400-57617600	Weak transcription	Fetal Muscle Leg	muscle
46	chr15:57616400-57617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:57616400-57618800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:57616400-57619000	Weak transcription	HSMM	muscle
49	chr15:57616400-57619200	Weak transcription	NHLF	lung
50	chr15:57616400-57619200	Weak transcription	Osteobl	bone

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