Variant report

Variant	rs574538964
Chromosome Location	chr8:65492222-65492223
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	POLR2A	chr8:65491671-65494766	GM15510	blood:	n/a	n/a
2	POLR2A	chr8:65492021-65492812	GM12892	blood:	n/a	n/a
3	POLR2A	chr8:65491654-65494727	GM12892	blood:	n/a	n/a
4	IKZF1	chr8:65491659-65492729	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:65491980-65492945	GM12892	blood:	n/a	n/a
6	POLR2A	chr8:65489458-65495014	GM18951	blood:	n/a	n/a
7	CHD2	chr8:65492149-65493115	GM12878	blood:	n/a	chr8:65492726-65492733
8	CTCF	chr8:65492160-65492310	GM12872	blood:	n/a	n/a
9	POLR2A	chr8:65492126-65493612	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:65491681-65494603	GM18526	blood:	n/a	n/a
11	TCF12	chr8:65492201-65492456	GM12878	blood:	n/a	chr8:65492331-65492338
12	POLR2A	chr8:65492069-65493027	GM12891	blood:	n/a	n/a
13	POLR2A	chr8:65492175-65493821	GM10847	blood:	n/a	n/a
14	EP300	chr8:65492208-65492458	GM12878	blood:	n/a	n/a
15	TAF1	chr8:65492148-65492520	GM12891	blood:	n/a	n/a
16	EBF1	chr8:65491967-65492899	GM12878	blood:	n/a	n/a
17	EBF1	chr8:65492218-65492475	GM12878	blood:	n/a	n/a
18	MAZ	chr8:65492077-65493148	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
20	RELA	chr8:65491732-65493118	GM18951	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
21	SP1	chr8:65492169-65492462	GM12878	blood:	n/a	n/a
22	RCOR1	chr8:65491812-65493125	GM12878	blood:	n/a	n/a
23	WRNIP1	chr8:65491769-65492295	GM12878	blood:	n/a	n/a
24	POU2F2	chr8:65491708-65492943	GM12878	blood:	n/a	chr8:65491944-65491957 chr8:65491944-65491957 chr8:65491945-65491959 chr8:65491942-65491964 chr8:65491944-65491957 chr8:65491943-65491964
25	POLR2A	chr8:65490848-65494958	H1-neurons	neurons:	n/a	n/a
26	RELA	chr8:65492125-65492971	GM12878	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
27	POLR2A	chr8:65491503-65495107	SK-N-MC	brain:	n/a	n/a
28	ZNF143	chr8:65492133-65493158	GM12878	blood:	n/a	chr8:65492466-65492484
29	POLR2A	chr8:65491730-65494687	GM12892	blood:	n/a	n/a
30	POLR2A	chr8:65491561-65494758	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:65491737-65494740	GM18505	blood:	n/a	n/a
32	POLR2A	chr8:65490914-65493622	H1-neurons	neurons:	n/a	n/a
33	RELA	chr8:65491907-65492961	GM19193	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
34	POLR2A	chr8:65491568-65493291	GM12891	blood:	n/a	n/a
35	TAF1	chr8:65492128-65492449	GM12891	blood:	n/a	n/a
36	TCF12	chr8:65492145-65492532	GM12878	blood:	n/a	chr8:65492331-65492338
37	TAF1	chr8:65492139-65492425	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:65491547-65493101	GM12878	blood:	n/a	n/a
39	RELA	chr8:65491427-65492957	GM19099	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
40	CHD1	chr8:65491785-65495139	GM12878	blood:	n/a	chr8:65492726-65492733
41	POLR2A	chr8:65491636-65493119	GM12891	blood:	n/a	n/a
42	POLR2A	chr8:65491520-65493185	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr8:65492060-65492969	GM12891	blood:	n/a	n/a
44	POLR2A	chr8:65492023-65493005	GM12892	blood:	n/a	n/a
45	RELA	chr8:65491778-65493114	GM15510	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
46	POU2F2	chr8:65492099-65492859	GM12891	blood:	n/a	n/a
47	EP300	chr8:65491833-65492908	GM12878	blood:	n/a	chr8:65492202-65492216
48	MXI1	chr8:65491806-65492958	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:65489580-65494694	GM19193	blood:	n/a	n/a
50	POLR2A	chr8:65489464-65493494	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254102	TF binding region
BHLHE22	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv972538	chr8:65489860-65495278	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
3	esv3375828	chr8:65492023-65494771	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65487800-65492800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
2	chr8:65489400-65492400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
3	chr8:65490200-65492400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr8:65490400-65492600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr8:65490800-65492800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:65490800-65495000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:65491200-65492400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr8:65491600-65492600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:65491600-65493000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
10	chr8:65491600-65494400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr8:65491800-65492400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:65491800-65492400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr8:65491800-65492400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
14	chr8:65491800-65492400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
15	chr8:65491800-65492600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:65491800-65492600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr8:65491800-65492600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr8:65491800-65492600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr8:65491800-65492600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr8:65491800-65492600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
21	chr8:65491800-65492800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:65491800-65493000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr8:65491800-65493000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:65491800-65494600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:65491800-65496000	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr8:65492000-65492400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr8:65492000-65492400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr8:65492000-65492400	Bivalent Enhancer	Liver	Liver
29	chr8:65492000-65492400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr8:65492000-65492600	Bivalent Enhancer	NHEK	skin
31	chr8:65492000-65492800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:65492000-65492800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
33	chr8:65492000-65493000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr8:65492200-65492400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:65492200-65492400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
44	chr8:65492200-65492400	Bivalent Enhancer	Fetal Heart	heart
45	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
46	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr8:65492200-65492400	Flanking Bivalent TSS/Enh	A549	lung
48	chr8:65492200-65492600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
49	chr8:65492200-65492600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
50	chr8:65492200-65492600	Bivalent Enhancer	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links