Variant report

Variant	rs59812744
Chromosome Location	chr15:100120171-100120172
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:100118981..100120902-chr15:100121379..100123708,2	K562	blood:
2	chr15:100111468..100113538-chr15:100118782..100121067,2	K562	blood:
3	chr15:100117617..100121955-chr15:100124250..100127287,4	K562	blood:
4	chr15:100104593..100107868-chr15:100116862..100120371,3	MCF-7	breast:
5	chr15:100116295..100118143-chr15:100119815..100121914,2	MCF-7	breast:
6	chr15:100115088..100116999-chr15:100119971..100123240,3	K562	blood:
7	chr15:100115012..100117156-chr15:100118010..100120795,3	K562	blood:
8	chr15:100104501..100107809-chr15:100115023..100120285,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11247113	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11247118	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11247120	0.89[EUR][1000 genomes]
rs12441844	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593181	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12913830	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2033547	0.88[EUR][1000 genomes]
rs2164058	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4965533	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4965534	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4965536	0.84[ASN][1000 genomes]
rs62042267	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7163683	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7176008	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7178948	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179518	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7181767	0.85[ASN][1000 genomes]
rs8024784	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8030814	0.89[EUR][1000 genomes]
rs8036535	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][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	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription 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 target site	44 gene(s)	inside rSNPs	diseases
4	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
7	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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
8	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv904558	chr15:100019382-100171684	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100107400-100120200	Weak transcription	Lung	lung
2	chr15:100107400-100134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:100107400-100134200	Weak transcription	Pancreas	Pancrea
4	chr15:100107800-100124800	Weak transcription	Fetal Stomach	stomach
5	chr15:100108000-100142000	Weak transcription	Thymus	Thymus
6	chr15:100108200-100120200	Weak transcription	Fetal Thymus	thymus
7	chr15:100108200-100125200	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:100108400-100124600	Weak transcription	Brain Germinal Matrix	brain
9	chr15:100109000-100124000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:100109000-100140200	Weak transcription	Hela-S3	cervix
11	chr15:100109600-100120200	Weak transcription	Right Atrium	heart
12	chr15:100109600-100120400	Weak transcription	HUVEC	blood vessel
13	chr15:100109600-100124000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:100109600-100125800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr15:100109600-100126200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:100109600-100132200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:100109800-100122000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:100113800-100120400	Weak transcription	Gastric	stomach
19	chr15:100113800-100120400	Weak transcription	Small Intestine	intestine
20	chr15:100114200-100124000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:100114400-100124400	Weak transcription	A549	lung
22	chr15:100114600-100120200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:100115000-100122800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:100115000-100138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:100115400-100120200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:100115800-100120400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:100115800-100121200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr15:100116400-100124000	Weak transcription	Primary B cells from cord blood	blood
29	chr15:100117000-100123000	Enhancers	Liver	Liver
30	chr15:100117600-100120800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:100117600-100120800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr15:100117600-100121000	Enhancers	Adipose Nuclei	Adipose
33	chr15:100117600-100123600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr15:100118200-100120600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:100118200-100121000	Enhancers	Primary B cells from peripheral blood	blood
36	chr15:100118400-100120800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr15:100118400-100121000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr15:100118600-100120400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:100118600-100120400	Enhancers	Brain Cingulate Gyrus	brain
40	chr15:100118600-100120800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:100118600-100121000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:100118600-100121000	Enhancers	Psoas Muscle	Psoas
43	chr15:100118800-100120200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:100118800-100120800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr15:100118800-100132200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:100118800-100139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:100119000-100120200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:100119000-100120200	Weak transcription	Left Ventricle	heart
49	chr15:100119000-100120200	Weak transcription	Ovary	ovary
50	chr15:100119000-100120400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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