Variant report

Variant	rs16929735
Chromosome Location	chr11:3844603-3844604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:3844394-3845119	SK-N-SH	brain:	n/a	chr11:3844716-3844725 chr11:3844717-3844726 chr11:3844715-3844726
2	FOS	chr11:3844573-3844883	MCF10A-Er-Src	breast:	n/a	chr11:3844716-3844725 chr11:3844715-3844726 chr11:3844717-3844726
3	FOSL2	chr11:3844524-3845017	SK-N-SH	brain:	n/a	chr11:3844716-3844725 chr11:3844717-3844726
4	FOS	chr11:3844567-3844896	MCF10A-Er-Src	breast:	n/a	chr11:3844716-3844725 chr11:3844715-3844726 chr11:3844717-3844726
5	FOS	chr11:3844573-3844896	MCF10A-Er-Src	breast:	n/a	chr11:3844716-3844725 chr11:3844715-3844726 chr11:3844717-3844726
6	FOS	chr11:3844547-3844921	HUVEC	blood vessel:	n/a	chr11:3844716-3844725 chr11:3844715-3844726 chr11:3844717-3844726
7	FOS	chr11:3844573-3844897	MCF10A-Er-Src	breast:	n/a	chr11:3844716-3844725 chr11:3844715-3844726 chr11:3844717-3844726

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3842483..3845464-chr11:3861552..3863945,2	MCF-7	breast:
2	chr11:3828900..3835031-chr11:3840756..3847684,8	K562	blood:

Variant related genes	Relation type
PGAP2	TF binding region
ENSG00000148985	Chromatin interaction
ENSG00000177105	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11820055	1.00[EUR][1000 genomes]
rs16929743	1.00[EUR][1000 genomes]
rs7113717	1.00[EUR][1000 genomes]
rs7114556	1.00[EUR][1000 genomes]
rs73421079	1.00[EUR][1000 genomes]
rs9665957	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv1044882	chr11:3828986-3860024	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1044360	chr11:3832288-3860024	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830200-3845200	Weak transcription	Spleen	Spleen
2	chr11:3830200-3845400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:3830200-3852400	Weak transcription	Fetal Brain Male	brain
4	chr11:3830400-3845000	Weak transcription	Fetal Brain Female	brain
5	chr11:3830400-3846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:3830400-3847200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:3830600-3844800	Weak transcription	NHLF	lung
8	chr11:3830600-3845000	Weak transcription	GM12878-XiMat	blood
9	chr11:3830600-3845200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:3830600-3845600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:3830600-3847000	Weak transcription	Colonic Mucosa	Colon
12	chr11:3830600-3848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
14	chr11:3830800-3844800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:3830800-3845200	Weak transcription	Pancreas	Pancrea
16	chr11:3830800-3845400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:3830800-3845400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:3830800-3845600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:3830800-3845800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:3830800-3845800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:3830800-3846000	Weak transcription	A549	lung
22	chr11:3830800-3846200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:3830800-3846200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:3830800-3846200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:3830800-3846600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:3831000-3844800	Weak transcription	Dnd41	blood
27	chr11:3831000-3845400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:3831000-3845400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:3831000-3845800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:3831000-3845800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:3831000-3845800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:3831000-3846200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:3831000-3847600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:3831200-3846200	Weak transcription	Hela-S3	cervix
35	chr11:3831200-3847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:3831400-3846200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:3831600-3846200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:3831600-3847200	Weak transcription	HepG2	liver
39	chr11:3832400-3845600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:3832600-3846200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:3832600-3853000	Weak transcription	Psoas Muscle	Psoas
42	chr11:3832800-3844800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:3832800-3847800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:3833200-3846200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:3834800-3845800	Weak transcription	Fetal Thymus	thymus
46	chr11:3835200-3846000	Weak transcription	Primary B cells from cord blood	blood
47	chr11:3837400-3845200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:3837800-3846000	Weak transcription	Right Atrium	heart
49	chr11:3838000-3846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:3838200-3847600	Weak transcription	Placenta Amnion	Placenta Amnion

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