Variant report

Variant	rs180830239
Chromosome Location	chr7:63360604-63360605
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	MAZ	chr7:63360569-63361310	K562	blood:	n/a	chr7:63360698-63360707
2	RCOR1	chr7:63360576-63360655	Hela-S3	cervix:	n/a	n/a
3	GATA2	chr7:63360365-63362284	SH-SY5Y	brain:	n/a	n/a
4	MXI1	chr7:63359973-63363196	SK-N-SH	brain:	n/a	chr7:63360694-63360709 chr7:63360692-63360707
5	SIN3AK20	chr7:63360464-63361551	PANC-1	pancreas:	n/a	n/a
6	BHLHE40	chr7:63360523-63360724	K562	blood:	n/a	n/a
7	CTCF	chr7:63360563-63360651	Spleen_OC	spleen:	n/a	n/a
8	TCF7L2	chr7:63360540-63361259	PANC-1	pancreas:	n/a	n/a
9	MYC	chr7:63360583-63360629	MCF-7	breast:	n/a	n/a
10	ELF1	chr7:63360413-63361513	MCF-7	breast:	n/a	n/a
11	MAX	chr7:63360374-63361672	MCF-7	breast:	n/a	chr7:63360698-63360707
12	MYC	chr7:63360549-63360670	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000263891	TF binding region
ENSG00000226581	TF binding region
ENSG00000236299	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv888257	chr7:63226279-63464342	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv888258	chr7:63294907-63537173	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv524380	chr7:63346886-63361078	Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv966815	chr7:63359141-63370063	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr7:63359800-63360800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
2	chr7:63360000-63360800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
3	chr7:63360000-63360800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr7:63360000-63361400	Active TSS	Duodenum Mucosa	Duodenum
5	chr7:63360000-63361800	Active TSS	Brain Substantia Nigra	brain
6	chr7:63360000-63362000	Active TSS	Primary T cells from cord blood	blood
7	chr7:63360000-63362000	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr7:63360000-63362000	ZNF genes & repeats	Placenta	Placenta
9	chr7:63360000-63362000	Active TSS	Rectal Smooth Muscle	rectum
10	chr7:63360000-63362200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr7:63360000-63362400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:63360000-63362400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
13	chr7:63360200-63360800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:63360200-63360800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:63360200-63360800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr7:63360200-63361000	Flanking Active TSS	Liver	Liver
17	chr7:63360200-63361000	Flanking Active TSS	Dnd41	blood
18	chr7:63360200-63361400	Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr7:63360200-63361600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:63360200-63361600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:63360200-63361600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:63360200-63361600	Active TSS	Brain Hippocampus Middle	brain
23	chr7:63360200-63361600	ZNF genes & repeats	Fetal Thymus	thymus
24	chr7:63360200-63361600	Active TSS	Ovary	ovary
25	chr7:63360200-63361600	Active TSS	Right Atrium	heart
26	chr7:63360200-63361800	Active TSS	Primary hematopoietic stem cells	blood
27	chr7:63360200-63361800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr7:63360200-63361800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr7:63360200-63361800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:63360200-63361800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr7:63360200-63362000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:63360200-63362000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:63360200-63362200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:63360400-63361400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:63360400-63361400	ZNF genes & repeats	Colonic Mucosa	Colon
36	chr7:63360400-63361600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:63360400-63361800	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr7:63360400-63361800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:63360400-63361800	Active TSS	Aorta	Aorta
40	chr7:63360400-63361800	Active TSS	Brain Cingulate Gyrus	brain
41	chr7:63360400-63361800	Active TSS	Colon Smooth Muscle	Colon
42	chr7:63360400-63361800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:63360400-63362000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr7:63360400-63362000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr7:63360400-63362000	Active TSS	Brain Anterior Caudate	brain
46	chr7:63360400-63362000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr7:63360400-63362000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:63360400-63362200	Active TSS	Brain Angular Gyrus	brain
49	chr7:63360600-63360800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:63360600-63360800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links