Variant report

Variant	rs142822121
Chromosome Location	chr1:95584119-95584120
allele	G/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	MXI1	chr1:95582035-95584169	SK-N-SH	brain:	n/a	n/a
2	EP300	chr1:95583867-95584870	K562	blood:	n/a	chr1:95584013-95584027
3	POLR2A	chr1:95581058-95585752	PBDE	blood:	n/a	n/a
4	RCOR1	chr1:95583598-95584185	K562	blood:	n/a	n/a
5	GATA1	chr1:95580973-95585387	PBDE	blood:	n/a	chr1:95581629-95581640 chr1:95583211-95583219 chr1:95582032-95582048 chr1:95584335-95584344 chr1:95584460-95584467
6	IRF1	chr1:95583761-95584803	K562	blood:	n/a	chr1:95583790-95583804 chr1:95583791-95583811 chr1:95583791-95583805 chr1:95584438-95584452

No.	Distal block	Cell Line	Cell type
1	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
2	chr1:95582616..95585939-chr1:95698259..95700506,4	K562	blood:
3	chr1:95000799..95003612-chr1:95583736..95585676,2	K562	blood:
4	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
5	chr1:95582556..95585358-chr1:95698094..95701319,5	K562	blood:
6	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
7	chr1:95549935..95550783-chr1:95583898..95584460,2	K562	blood:

Variant related genes	Relation type
ENSG00000231992	TF binding region
ENSG00000122481	Chromatin interaction
ENSG00000117525	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000206679	Chromatin interaction

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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3354291	chr1:95580964-95585362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
3	esv3407777	chr1:95581989-95584537	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
4	esv3326839	chr1:95582464-95584412	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:95582200-95584200	Active TSS	A549	lung
4	chr1:95582200-95584400	Active TSS	Brain Cingulate Gyrus	brain
5	chr1:95582200-95584400	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:95582200-95584600	Active TSS	Right Atrium	heart
7	chr1:95582200-95584600	Active TSS	Right Ventricle	heart
8	chr1:95583400-95584200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:95583400-95584200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:95583600-95584200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:95583600-95584200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:95583600-95585800	Flanking Active TSS	K562	blood
13	chr1:95583800-95584200	Flanking Active TSS	Fetal Heart	heart
14	chr1:95583800-95587600	Weak transcription	Gastric	stomach
15	chr1:95584000-95584200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr1:95584000-95584200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:95584000-95584200	Active TSS	Liver	Liver
18	chr1:95584000-95584200	Enhancers	Brain Hippocampus Middle	brain
19	chr1:95584000-95584200	Active TSS	Colonic Mucosa	Colon
20	chr1:95584000-95584200	Active TSS	Duodenum Mucosa	Duodenum
21	chr1:95584000-95584200	Active TSS	Fetal Intestine Large	intestine
22	chr1:95584000-95584200	Bivalent Enhancer	Fetal Lung	lung
23	chr1:95584000-95584200	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr1:95584000-95584200	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:95584000-95584200	Active TSS	HepG2	liver
26	chr1:95584000-95584400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:95584000-95584400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
28	chr1:95584000-95584400	Enhancers	Adipose Nuclei	Adipose
29	chr1:95584000-95584400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:95584000-95584400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:95584000-95584400	Enhancers	Hela-S3	cervix
32	chr1:95584000-95584600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:95584000-95584800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:95584000-95584800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:95584000-95584800	Weak transcription	Pancreas	Pancrea
36	chr1:95584000-95584800	Weak transcription	Psoas Muscle	Psoas
37	chr1:95584000-95585000	Weak transcription	Left Ventricle	heart
38	chr1:95584000-95585400	Enhancers	Colon Smooth Muscle	Colon
39	chr1:95584000-95586400	Enhancers	Brain Angular Gyrus	brain
40	chr1:95584000-95586600	Enhancers	Brain Anterior Caudate	brain
41	chr1:95584000-95586800	Enhancers	Brain Substantia Nigra	brain
42	chr1:95584000-95587600	Weak transcription	Fetal Intestine Small	intestine
43	chr1:95584000-95592600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:95584000-95629400	Weak transcription	Aorta	Aorta

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