Variant report

Variant	rs11815349
Chromosome Location	chr10:45374497-45374498
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45358806..45362184-chr10:45374031..45377195,7	MCF-7	breast:
2	chr10:45374438..45376422-chr10:45380219..45382953,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11239300	1.00[EUR][1000 genomes]
rs11816338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12249378	1.00[EUR][1000 genomes]
rs12250724	1.00[EUR][1000 genomes]
rs12251910	1.00[EUR][1000 genomes]
rs56413731	1.00[EUR][1000 genomes]
rs57792208	1.00[EUR][1000 genomes]
rs7085359	1.00[EUR][1000 genomes]
rs7095998	1.00[EUR][1000 genomes]
rs73275092	1.00[EUR][1000 genomes]
rs74128124	1.00[EUR][1000 genomes]
rs7899617	1.00[EUR][1000 genomes]
rs7900196	1.00[EUR][1000 genomes]
rs7903078	1.00[EUR][1000 genomes]
rs7903359	1.00[EUR][1000 genomes]
rs7924266	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1050496	chr10:45227530-45382154	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11815349	TPBG	trans	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45374000-45374600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:45374000-45374600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:45374000-45374600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr10:45374000-45374600	Active TSS	Primary B cells from cord blood	blood
5	chr10:45374000-45374600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr10:45374000-45374600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr10:45374000-45374600	Active TSS	Brain Anterior Caudate	brain
8	chr10:45374000-45374600	Flanking Active TSS	Fetal Stomach	stomach
9	chr10:45374000-45374600	Active TSS	Rectal Smooth Muscle	rectum
10	chr10:45374000-45374600	Flanking Active TSS	HMEC	breast
11	chr10:45374000-45374800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:45374000-45374800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr10:45374000-45374800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:45374000-45374800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:45374000-45374800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:45374000-45374800	Active TSS	Brain Germinal Matrix	brain
17	chr10:45374000-45374800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr10:45374000-45374800	Enhancers	Lung	lung
19	chr10:45374000-45374800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr10:45374000-45375000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:45374000-45375000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr10:45374000-45375000	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr10:45374000-45375000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr10:45374000-45375000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr10:45374000-45375000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:45374000-45375000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:45374000-45375000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr10:45374000-45375000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:45374000-45375000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:45374000-45375000	Flanking Active TSS	Liver	Liver
31	chr10:45374000-45375000	Active TSS	Fetal Kidney	kidney
32	chr10:45374000-45375000	Flanking Active TSS	Fetal Thymus	thymus
33	chr10:45374000-45375000	Active TSS	Psoas Muscle	Psoas
34	chr10:45374000-45375000	Flanking Active TSS	Dnd41	blood
35	chr10:45374000-45375000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr10:45374000-45375200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:45374000-45375200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:45374000-45375200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr10:45374000-45375200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr10:45374000-45375200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr10:45374000-45375200	Flanking Active TSS	HSMMtube	muscle
42	chr10:45374000-45375200	Flanking Active TSS	NHEK	skin
43	chr10:45374000-45375400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:45374000-45375400	Active TSS	Brain Angular Gyrus	brain
45	chr10:45374000-45375400	Flanking Active TSS	Fetal Brain Female	brain
46	chr10:45374000-45375400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr10:45374000-45375400	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr10:45374200-45374600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:45374200-45374600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr10:45374200-45374600	Active TSS	HUES64 Cell Line	embryonic stem cell

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