Variant report

Variant	rs2074651
Chromosome Location	chr22:30803289-30803290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30803080-30803333	K562	blood:	n/a	n/a
2	POLR2A	chr22:30803132-30803490	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:30803235-30803314	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30802321..30807877-chr22:30810760..30815440,6	MCF-7	breast:
2	chr22:30801200..30804661-chr22:30818320..30820212,3	MCF-7	breast:
3	chr22:30800239..30801947-chr22:30802123..30804894,2	K562	blood:
4	chr22:30801331..30806439-chr22:30816907..30821751,5	K562	blood:
5	chr22:30803275..30806677-chr22:30820826..30824180,3	MCF-7	breast:
6	chr22:30792691..30796123-chr22:30800325..30803316,3	MCF-7	breast:

No data

Variant related genes	Relation type
SEC14L2	TF binding region
ENSG00000249590	TF binding region
ENSG00000100003	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000222915	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1061660	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12106618	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16988620	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2018514	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2072157	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2072158	0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs2072159	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs2074732	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs2240422	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs2283868	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283869	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28523826	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4820003	0.82[CEU][hapmap]
rs4820010	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5749090	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs5753116	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5753117	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997629	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5997641	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7292744	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73390209	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs757660	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs757870	0.83[CEU][hapmap]
rs887098	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]

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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30794000-30816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30794000-30818000	Weak transcription	Right Atrium	heart
3	chr22:30794400-30811800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:30794600-30811400	Weak transcription	Right Ventricle	heart
5	chr22:30794800-30811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr22:30794800-30811600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr22:30794800-30818600	Weak transcription	Primary B cells from cord blood	blood
8	chr22:30795000-30809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr22:30795000-30814600	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:30795200-30804600	Weak transcription	NHDF-Ad	bronchial
11	chr22:30795200-30804800	Weak transcription	Pancreas	Pancrea
12	chr22:30795200-30807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:30795200-30809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr22:30795200-30810200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:30795200-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:30795200-30814400	Weak transcription	Small Intestine	intestine
17	chr22:30795400-30812000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr22:30796000-30813400	Weak transcription	Fetal Kidney	kidney
19	chr22:30796200-30804400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:30796200-30811400	Weak transcription	Placenta	Placenta
21	chr22:30797000-30804400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:30797200-30804600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:30797800-30803600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:30797800-30804600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:30797800-30805000	Genic enhancers	HMEC	breast
26	chr22:30797800-30816400	Strong transcription	Dnd41	blood
27	chr22:30798000-30804000	Strong transcription	NHEK	skin
28	chr22:30798200-30805000	Weak transcription	Ovary	ovary
29	chr22:30798600-30804200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:30798600-30804600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:30798600-30811400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr22:30798600-30811600	Weak transcription	GM12878-XiMat	blood
33	chr22:30798600-30812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:30798600-30812200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:30798800-30804600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr22:30798800-30811400	Weak transcription	Colonic Mucosa	Colon
37	chr22:30799400-30804600	Strong transcription	HSMM	muscle
38	chr22:30799400-30812000	Weak transcription	Stomach Mucosa	stomach
39	chr22:30799400-30817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:30800200-30812600	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr22:30800400-30806400	Weak transcription	Left Ventricle	heart
42	chr22:30800400-30806600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:30800600-30811600	Weak transcription	Psoas Muscle	Psoas
44	chr22:30801000-30804600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:30801200-30808000	Strong transcription	Gastric	stomach
46	chr22:30801200-30814400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:30801400-30803400	Genic enhancers	Brain Substantia Nigra	brain
48	chr22:30801400-30806600	Strong transcription	Brain Hippocampus Middle	brain
49	chr22:30801400-30807800	Strong transcription	Primary T cells from cord blood	blood
50	chr22:30801400-30816600	Strong transcription	Fetal Stomach	stomach

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