Variant report

Variant	rs17719449
Chromosome Location	chr8:95844438-95844439
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95834990..95838474-chr8:95840154..95845395,5	K562	blood:
2	chr8:95837308..95840222-chr8:95842843..95845160,2	K562	blood:
3	chr8:95844045..95845788-chr8:95849185..95850890,2	MCF-7	breast:
4	chr8:95844414..95846200-chr8:95848698..95850830,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11778553	1.00[ASW][hapmap]
rs11782818	1.00[ASW][hapmap]
rs11783878	1.00[ASW][hapmap]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17719449	BMP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95836200-95846000	Weak transcription	Lung	lung
2	chr8:95836600-95848200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:95836800-95845000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:95836800-95847000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:95836800-95850800	Weak transcription	HSMMtube	muscle
6	chr8:95836800-95866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:95836800-95874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:95837000-95846000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:95837000-95849800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:95837200-95845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:95837400-95846800	Weak transcription	Stomach Mucosa	stomach
13	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:95837600-95850600	Weak transcription	Fetal Brain Male	brain
15	chr8:95837600-95869800	Weak transcription	Psoas Muscle	Psoas
16	chr8:95838200-95845200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:95838600-95860400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:95838800-95844600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:95838800-95845000	Strong transcription	K562	blood
21	chr8:95838800-95876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:95839400-95844800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:95839400-95845200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:95839400-95845200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:95839400-95845800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:95839400-95847400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:95839400-95847800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:95839400-95848000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:95839400-95854800	Strong transcription	Fetal Thymus	thymus
30	chr8:95839400-95857800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr8:95839400-95859600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:95839400-95872200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr8:95839400-95872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:95839400-95872400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:95839400-95872400	Strong transcription	Dnd41	blood
36	chr8:95839400-95872600	Strong transcription	Liver	Liver
37	chr8:95839400-95872600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:95839600-95844600	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:95839600-95854600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:95839600-95858000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:95839600-95863200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr8:95839600-95873400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:95839600-95873400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:95839800-95846000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr8:95839800-95846800	Strong transcription	Osteobl	bone
47	chr8:95839800-95852400	Strong transcription	A549	lung
48	chr8:95840000-95848600	Strong transcription	Fetal Stomach	stomach
49	chr8:95840200-95853800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:95840200-95860600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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