Variant report

Variant	rs115201086
Chromosome Location	chr9:1051567-1051568
allele	C/T
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	YY1	chr9:1051467-1051694	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr9:1051547-1052408	A549	lung:	n/a	n/a
3	SIN3A	chr9:1051524-1052210	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr9:1051321-1052519	H1-hESC	embryonic stem cell:	n/a	chr9:1051949-1051964
5	YY1	chr9:1051310-1051798	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr9:1051535-1052322	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr9:1051517-1052215	H1-hESC	embryonic stem cell:	n/a	chr9:1051949-1051964
8	POLR2A	chr9:1049803-1053615	SK-N-MC	brain:	n/a	n/a
9	MAX	chr9:1051264-1052235	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
DMRT2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025492	chr9:478813-1157169	Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv539897	chr9:478813-1157169	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv613037	chr9:643453-1138368	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS 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 target site	16 gene(s)	inside rSNPs	diseases
4	nsv817248	chr9:706283-1457665	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv892010	chr9:841152-1069663	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1034070	chr9:911265-1152351	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1016222	chr9:999390-1284180	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025752	chr9:1003311-1124524	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1027466	chr9:1007196-1097053	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1033117	chr9:1007196-1129306	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1016321	chr9:1034594-1592366	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv539908	chr9:1034594-1592366	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3420946	chr9:1050577-1053125	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv948914	chr9:1050981-1311310	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1049600-1051600	Enhancers	Pancreas	Pancrea
2	chr9:1049600-1053400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr9:1049800-1051600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
4	chr9:1049800-1052200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr9:1049800-1052200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr9:1049800-1053000	Active TSS	Psoas Muscle	Psoas
7	chr9:1049800-1053200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr9:1049800-1053200	Bivalent Enhancer	Liver	Liver
9	chr9:1050000-1051600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:1050000-1051600	Bivalent/Poised TSS	Fetal Thymus	thymus
11	chr9:1050000-1052000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr9:1050000-1052200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:1050000-1052400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:1050000-1052600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr9:1050000-1052800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr9:1050000-1053200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr9:1050000-1053400	Bivalent/Poised TSS	Thymus	Thymus
18	chr9:1050400-1051600	Weak transcription	Osteobl	bone
19	chr9:1050400-1053200	Bivalent Enhancer	Fetal Brain Male	brain
20	chr9:1050600-1051600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:1050600-1051600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:1050600-1051600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr9:1050600-1051600	Weak transcription	HSMM	muscle
24	chr9:1050600-1051800	Weak transcription	HSMMtube	muscle
25	chr9:1050600-1053000	Bivalent Enhancer	Fetal Stomach	stomach
26	chr9:1050600-1053200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr9:1050800-1051600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:1050800-1051600	Weak transcription	Right Atrium	heart
29	chr9:1050800-1051600	Weak transcription	NHDF-Ad	bronchial
30	chr9:1050800-1052000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
31	chr9:1050800-1052000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr9:1050800-1052200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr9:1050800-1052600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
34	chr9:1051200-1051600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:1051200-1051600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr9:1051200-1051600	Bivalent Enhancer	Fetal Lung	lung
37	chr9:1051200-1051600	Bivalent Enhancer	Placenta	Placenta
38	chr9:1051200-1051600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr9:1051200-1051800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:1051200-1052000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr9:1051200-1052000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr9:1051200-1052000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
43	chr9:1051200-1052600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr9:1051200-1052600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:1051200-1052800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr9:1051200-1053400	Bivalent Enhancer	Spleen	Spleen
47	chr9:1051400-1051600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:1051400-1051600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr9:1051400-1051600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr9:1051400-1051600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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