Variant report

Variant	rs11507717
Chromosome Location	chr9:136401606-136401607
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136401564..136404417-chr9:136570647..136572781,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11516156	0.80[ASN][1000 genomes]
rs11524286	0.80[ASN][1000 genomes]
rs1858838	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1858839	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2073872	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894059	chr9:136123840-136486929	Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv894077	chr9:136166346-136515297	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv894078	chr9:136194595-136484292	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv933226	chr9:136224559-136407071	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv894083	chr9:136281753-136452144	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv894084	chr9:136281753-136458311	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv894085	chr9:136281753-136478442	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv894092	chr9:136311679-136452144	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv894093	chr9:136311679-136458311	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv894094	chr9:136311679-136528721	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	nsv894097	chr9:136333356-136407208	Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv894098	chr9:136335824-136452144	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv894099	chr9:136337168-136459543	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
17	nsv894100	chr9:136371224-136547602	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv894101	chr9:136378650-136458311	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv894102	chr9:136388223-136496708	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv894103	chr9:136397195-136442192	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv615637	chr9:136397834-136404516	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv894104	chr9:136399075-136442192	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11507717	VAV2,LOC100128155	cis	brain	BrainEAC

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136398200-136402000	Enhancers	Fetal Brain Male	brain
2	chr9:136398600-136402200	Enhancers	Spleen	Spleen
3	chr9:136400200-136401800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:136400200-136404200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:136400200-136404200	Weak transcription	HSMMtube	muscle
6	chr9:136400200-136404600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:136400400-136402000	Enhancers	Right Ventricle	heart
8	chr9:136400400-136404200	Weak transcription	HSMM	muscle
9	chr9:136400600-136401800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr9:136400800-136401800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:136400800-136402000	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr9:136400800-136404000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:136400800-136404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:136400800-136405800	Weak transcription	Gastric	stomach
15	chr9:136400800-136428200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr9:136401000-136402000	Enhancers	Brain Angular Gyrus	brain
17	chr9:136401000-136402000	Enhancers	Brain Hippocampus Middle	brain
18	chr9:136401000-136402200	Enhancers	Fetal Lung	lung
19	chr9:136401000-136403200	Weak transcription	Left Ventricle	heart
20	chr9:136401000-136406400	Enhancers	Lung	lung
21	chr9:136401200-136401800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:136401200-136402000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:136401200-136402000	Enhancers	Brain Substantia Nigra	brain
24	chr9:136401200-136402000	Active TSS	Right Atrium	heart
25	chr9:136401200-136402200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr9:136401200-136402400	Weak transcription	Esophagus	oesophagus
27	chr9:136401200-136404000	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:136401200-136404200	Weak transcription	Fetal Heart	heart
29	chr9:136401200-136404200	Weak transcription	Ovary	ovary
30	chr9:136401200-136435600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr9:136401400-136401800	Enhancers	Brain Cingulate Gyrus	brain
32	chr9:136401400-136401800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr9:136401400-136401800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
34	chr9:136401400-136402000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:136401400-136402200	Enhancers	Brain Anterior Caudate	brain
36	chr9:136401400-136404400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr9:136401400-136406000	Weak transcription	Liver	Liver
38	chr9:136401600-136402000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:136401600-136403600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:136401600-136404000	Weak transcription	Pancreas	Pancrea
41	chr9:136401600-136423200	Weak transcription	Fetal Brain Female	brain

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