Variant report

Variant	rs534039490
Chromosome Location	chr9:100614092-100614093
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	SIN3A	chr9:100613910-100614092	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:100613782-100614557	H1-neurons	neurons:	n/a	n/a
3	UBTF	chr9:100614008-100614154	K562	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	POLR2A	chr9:100613478-100614224	H1-neurons	neurons:	n/a	n/a
7	TCF12	chr9:100613789-100614128	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr9:100613541-100614161	H1-hESC	embryonic stem cell:	n/a	chr9:100613926-100613940
9	MAX	chr9:100613853-100614253	H1-hESC	embryonic stem cell:	n/a	n/a
10	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:67 , 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	chr9:100613800-100614200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:100613800-100614200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:100613800-100614200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr9:100613800-100614200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
15	chr9:100613800-100614200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:100613800-100614200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
17	chr9:100613800-100614200	Bivalent Enhancer	Gastric	stomach
18	chr9:100613800-100614400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr9:100613800-100614600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr9:100613800-100614600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr9:100613800-100614800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:100613800-100615200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr9:100613800-100615400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr9:100613800-100615600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr9:100613800-100615600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
26	chr9:100613800-100615800	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr9:100613800-100616200	Bivalent Enhancer	Liver	Liver
28	chr9:100613800-100616400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:100613800-100616400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr9:100613800-100616400	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr9:100613800-100616400	Bivalent Enhancer	Fetal Stomach	stomach
32	chr9:100613800-100616600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:100613800-100616800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr9:100613800-100617400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr9:100613800-100617800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr9:100614000-100614200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr9:100614000-100614200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:100614000-100614200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:100614000-100614200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr9:100614000-100614200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:100614000-100614200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:100614000-100614200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
43	chr9:100614000-100614200	Bivalent Enhancer	Left Ventricle	heart
44	chr9:100614000-100614200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr9:100614000-100614200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr9:100614000-100614200	Bivalent Enhancer	Small Intestine	intestine
47	chr9:100614000-100614200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
48	chr9:100614000-100614200	Flanking Bivalent TSS/Enh	HMEC	breast
49	chr9:100614000-100614200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
50	chr9:100614000-100614200	Flanking Bivalent TSS/Enh	NHEK	skin

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