Variant report

Variant	rs11076256
Chromosome Location	chr16:58752466-58752467
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	SP1	chr16:58752345-58752639	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:58751934..58754390-chr16:58755126..58757009,2	K562	blood:

Variant related genes	Relation type
GOT2	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11643799	1.00[ASN][1000 genomes]
rs11643959	0.88[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11647808	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12921667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12921819	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12923672	0.88[EUR][1000 genomes]
rs12924255	0.83[EUR][1000 genomes]
rs12924700	0.90[EUR][1000 genomes]
rs12932751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71400028	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71400029	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71400030	0.86[EUR][1000 genomes]
rs7204324	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050744	0.84[EUR][1000 genomes]
rs8055234	0.84[EUR][1000 genomes];1.00[ASN][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	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	11 gene(s)	inside rSNPs	n/a
5	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr16:58738200-58757800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:58738200-58758000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:58738400-58759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr16:58738400-58766600	Weak transcription	Stomach Mucosa	stomach
5	chr16:58739000-58757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:58739200-58758000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:58739200-58758000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr16:58739200-58758400	Strong transcription	Primary T cells from cord blood	blood
9	chr16:58739200-58759000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:58739200-58759600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:58739400-58758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:58739600-58753000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:58739600-58757600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:58739600-58757800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr16:58739600-58758000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr16:58739600-58758200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:58739600-58758400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:58739800-58753400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:58739800-58757800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr16:58739800-58757800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr16:58739800-58757800	Strong transcription	Thymus	Thymus
22	chr16:58739800-58759200	Strong transcription	Dnd41	blood
23	chr16:58739800-58759800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:58740000-58753200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:58740000-58755200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:58740200-58754200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:58740400-58756400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr16:58740400-58757800	Strong transcription	Fetal Intestine Large	intestine
29	chr16:58740400-58757800	Strong transcription	Ovary	ovary
30	chr16:58740400-58757800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr16:58740400-58758000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr16:58740400-58759000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:58740600-58757800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr16:58743000-58757800	Strong transcription	HUVEC	blood vessel
35	chr16:58743400-58759000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:58744800-58757800	Strong transcription	Fetal Brain Female	brain
37	chr16:58745000-58757800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:58745000-58757800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr16:58745000-58757800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:58745000-58758400	Strong transcription	Left Ventricle	heart
41	chr16:58745200-58753400	Strong transcription	NHEK	skin
42	chr16:58745200-58757600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:58745200-58758400	Strong transcription	Osteobl	bone
44	chr16:58745400-58758000	Strong transcription	Fetal Intestine Small	intestine
45	chr16:58745600-58757800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr16:58747000-58753600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr16:58747200-58757600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:58747400-58752800	Strong transcription	Hela-S3	cervix
49	chr16:58747400-58753200	Strong transcription	Placenta	Placenta
50	chr16:58747400-58753200	Strong transcription	GM12878-XiMat	blood

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