Variant report

Variant	rs11915147
Chromosome Location	chr3:53380591-53380592
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53378987..53381493-chr3:53513545..53516327,2	K562	blood:
2	chr3:53163489..53166052-chr3:53379929..53382792,2	K562	blood:
3	chr3:53379336..53381314-chr3:53710176..53712329,2	K562	blood:
4	chr3:53189408..53191760-chr3:53379077..53380692,2	MCF-7	breast:
5	chr3:53365993..53368934-chr3:53378363..53380732,2	K562	blood:

Variant related genes	Relation type
ENSG00000163932	Chromatin interaction
ENSG00000163933	Chromatin interaction
ENSG00000207109	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11919567	0.96[ASN][1000 genomes]
rs12487816	1.00[AMR][1000 genomes]
rs12488901	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12491594	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12492129	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12494167	0.81[AMR][1000 genomes]
rs12496449	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12496915	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12631120	0.81[AMR][1000 genomes]
rs1961499	0.81[AMR][1000 genomes]
rs2128710	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73843118	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53346600-53380600	Weak transcription	Spleen	Spleen
2	chr3:53352800-53380600	Weak transcription	Esophagus	oesophagus
3	chr3:53353000-53380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:53358400-53380600	Weak transcription	Lung	lung
5	chr3:53360800-53380600	Weak transcription	Gastric	stomach
6	chr3:53363200-53380600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:53370600-53380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:53376800-53380600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:53376800-53380600	Weak transcription	Pancreas	Pancrea
10	chr3:53377200-53380600	Weak transcription	Small Intestine	intestine
11	chr3:53377400-53380600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:53379400-53382200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:53379400-53382200	Active TSS	NHLF	lung
14	chr3:53379600-53381000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr3:53379600-53382200	Active TSS	NHDF-Ad	bronchial
16	chr3:53379600-53382400	Active TSS	A549	lung
17	chr3:53379600-53382400	Active TSS	HMEC	breast
18	chr3:53379800-53380600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:53379800-53380600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr3:53379800-53380600	Weak transcription	Stomach Mucosa	stomach
21	chr3:53379800-53380800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:53379800-53380800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr3:53379800-53380800	Flanking Active TSS	Dnd41	blood
24	chr3:53379800-53381000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr3:53379800-53382000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:53379800-53382000	Active TSS	Fetal Muscle Leg	muscle
27	chr3:53379800-53382000	Active TSS	Osteobl	bone
28	chr3:53379800-53382200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:53379800-53382200	Active TSS	K562	blood
30	chr3:53379800-53382400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:53379800-53382400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:53380000-53380600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr3:53380000-53380600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr3:53380000-53380600	Active TSS	HepG2	liver
35	chr3:53380000-53381200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr3:53380000-53381200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr3:53380000-53382200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr3:53380000-53382200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:53380000-53382200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:53380000-53382200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:53380000-53382400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:53380000-53382400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr3:53380000-53382400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:53380000-53382400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:53380000-53382400	Active TSS	Fetal Intestine Large	intestine
46	chr3:53380000-53382400	Active TSS	GM12878-XiMat	blood
47	chr3:53380000-53382400	Active TSS	NH-A	brain
48	chr3:53380000-53382600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr3:53380200-53380600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr3:53380200-53380600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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