Variant report

Variant	rs60619762
Chromosome Location	chr15:41147921-41147922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41147027..41152625-chr15:41184304..41188925,8	K562	blood:
2	chr15:41147225..41150329-chr15:41164541..41167398,4	K562	blood:

Variant related genes	Relation type
ENSG00000104140	Chromatin interaction
ENSG00000104142	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16971119	0.87[ASN][1000 genomes]
rs55896567	0.85[ASN][1000 genomes]
rs57288992	0.88[ASN][1000 genomes]
rs58375351	0.87[ASN][1000 genomes]
rs60111609	0.85[ASN][1000 genomes]
rs60125661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60822673	0.87[ASN][1000 genomes]
rs73400524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73400528	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8028552	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41137400-41152200	Weak transcription	Small Intestine	intestine
2	chr15:41137400-41165800	Weak transcription	Right Atrium	heart
3	chr15:41140000-41149800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr15:41140000-41149800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr15:41140000-41150400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:41140200-41148000	Weak transcription	Spleen	Spleen
7	chr15:41140200-41149600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr15:41140200-41149600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr15:41140200-41149800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:41140200-41150000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:41140400-41149400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:41140400-41151200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:41140600-41149400	Strong transcription	NHEK	skin
14	chr15:41140600-41150000	Weak transcription	Fetal Kidney	kidney
15	chr15:41140600-41151600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:41140800-41148600	Weak transcription	Stomach Mucosa	stomach
17	chr15:41140800-41149400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:41140800-41149600	Weak transcription	K562	blood
19	chr15:41141200-41152600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:41141400-41149000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:41141600-41149000	Strong transcription	HMEC	breast
22	chr15:41141800-41148800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:41141800-41149800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:41142000-41149800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:41142400-41149600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:41142600-41148800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:41142600-41149400	Strong transcription	Lung	lung
28	chr15:41142600-41149600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:41142600-41149600	Strong transcription	Fetal Stomach	stomach
30	chr15:41143200-41149400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:41143800-41148600	Strong transcription	Gastric	stomach
32	chr15:41144400-41149600	Strong transcription	Pancreas	Pancrea
33	chr15:41144600-41148600	Strong transcription	Placenta	Placenta
34	chr15:41144600-41149400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:41144600-41149600	Strong transcription	Esophagus	oesophagus
36	chr15:41144800-41149400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:41144800-41149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:41145000-41149000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr15:41145200-41149000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:41145200-41149200	Weak transcription	HepG2	liver
41	chr15:41145200-41149600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr15:41145400-41148400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr15:41145400-41149000	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr15:41145600-41148800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:41145600-41148800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:41145600-41149000	Strong transcription	Fetal Intestine Large	intestine
47	chr15:41145800-41148400	Strong transcription	Fetal Intestine Small	intestine
48	chr15:41145800-41149000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:41146600-41154200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr15:41147000-41148000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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