Variant report

Variant	rs551117609
Chromosome Location	chr9:100614428-100614429
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	ZNF143	chr9:100614313-100615032	H1-hESC	embryonic stem cell:	n/a	chr9:100614668-100614686
2	POLR2A	chr9:100613782-100614557	H1-neurons	neurons:	n/a	n/a
3	CTCF	chr9:100614380-100614530	GM12865	blood:	n/a	n/a
4	CTBP2	chr9:100613864-100616060	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr9:100613856-100618340	H1-hESC	embryonic stem cell:	n/a	n/a
6	SUZ12	chr9:100612750-100618219	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
FOXE1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv6627	chr9:100576258-100621034	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv825000	chr9:100613121-100618319	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3330300	chr9:100613506-100618154	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100613400-100615400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:100613400-100615600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr9:100613400-100615600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr9:100613400-100615600	Bivalent Enhancer	Spleen	Spleen
5	chr9:100613400-100618800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:100613600-100615000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr9:100613600-100615000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
8	chr9:100613600-100615000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr9:100613600-100615200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
10	chr9:100613600-100618000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr9:100613800-100614600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr9:100613800-100614600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr9:100613800-100614800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:100613800-100615200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr9:100613800-100615400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr9:100613800-100615600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr9:100613800-100615600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
18	chr9:100613800-100615800	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr9:100613800-100616200	Bivalent Enhancer	Liver	Liver
20	chr9:100613800-100616400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:100613800-100616400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr9:100613800-100616400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr9:100613800-100616400	Bivalent Enhancer	Fetal Stomach	stomach
24	chr9:100613800-100616600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:100613800-100616800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr9:100613800-100617400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr9:100613800-100617800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr9:100614000-100614600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:100614000-100614800	Bivalent Enhancer	Right Ventricle	heart
30	chr9:100614000-100615000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr9:100614000-100615000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:100614000-100615000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:100614000-100615400	Enhancers	Pancreas	Pancrea
34	chr9:100614000-100615600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:100614000-100615600	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr9:100614000-100615600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
37	chr9:100614000-100615800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:100614000-100616400	Bivalent Enhancer	Lung	lung
39	chr9:100614000-100616600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr9:100614000-100617800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr9:100614000-100617800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:100614200-100614600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:100614200-100614800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr9:100614200-100615000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr9:100614200-100615400	Weak transcription	Gastric	stomach
46	chr9:100614200-100615600	Bivalent/Poised TSS	Esophagus	oesophagus
47	chr9:100614400-100614600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr9:100614400-100614600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:100614400-100614600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr9:100614400-100614600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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