Variant report

Variant	rs1466428
Chromosome Location	chr8:99055939-99055940
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:99055687-99058203	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr8:99055669-99056293	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:99055733-99056411	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:99054646-99059519	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr8:99054198-99058553	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr8:99055514-99056113	K562	blood:	n/a	n/a
7	POLR2A	chr8:99055817-99056338	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:99055829-99058844	GM12891	blood:	n/a	n/a
9	POLR2A	chr8:99054010-99056007	K562	blood:	n/a	n/a
10	POLR2A	chr8:99055809-99058570	GM12892	blood:	n/a	n/a
11	POLR2A	chr8:99055816-99058226	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:99054530-99058884	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr8:99055565-99058789	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr8:99055622-99056095	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr8:99055896-99058116	GM12891	blood:	n/a	n/a
16	POLR2A	chr8:99050206-99056102	K562	blood:	n/a	n/a
17	POLR2A	chr8:99055637-99056129	HCT-116	colon:	n/a	n/a
18	POLR2A	chr8:99055622-99056097	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:99055696-99057976	HepG2	liver:	n/a	n/a
20	POLR2A	chr8:99051437-99058581	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr8:99055927-99055948	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr8:99055279-99056296	K562	blood:	n/a	n/a
23	POLR2A	chr8:99055678-99058676	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:99055678-99056053	HepG2	liver:	n/a	n/a
25	POLR2A	chr8:99055732-99058711	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr8:99055736-99058312	IMR90	lung:	n/a	n/a
27	POLR2A	chr8:99055638-99058242	GM12892	blood:	n/a	n/a
28	POLR2A	chr8:99055721-99056143	HL-60	blood:	n/a	n/a
29	POLR2A	chr8:99055731-99056068	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:99054736-99058558	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr8:99050185-99058947	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:99055696-99057932	A549	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99054883..99058427-chr8:99128521..99131598,4	K562	blood:
2	chr8:99054385..99060040-chr8:99125093..99131908,20	MCF-7	breast:
3	chr8:98961024..98963389-chr8:99054505..99057436,2	MCF-7	breast:
4	chr8:98880240..98884584-chr8:99054888..99058750,6	MCF-7	breast:
5	chr8:99055858..99058755-chr8:99126907..99132454,7	K562	blood:
6	chr8:99055062..99058733-chr8:99305548..99307498,3	MCF-7	breast:
7	chr8:99054555..99060747-chr8:99127722..99132697,23	MCF-7	breast:
8	chr8:99039036..99041305-chr8:99052525..99056666,3	K562	blood:
9	chr8:99054937..99059484-chr8:99117612..99122860,5	MCF-7	breast:

No data

Variant related genes	Relation type
SNORA72	TF binding region
RPL30	TF binding region
ENSG00000132541	Chromatin interaction
ENSG00000104356	Chromatin interaction
ENSG00000132561	Chromatin interaction
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1965914	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034779	0.91[JPT][hapmap]
rs2248014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2255464	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2444873	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2444892	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513809	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2513810	0.93[ASN][1000 genomes]
rs2513811	1.00[ASN][1000 genomes]
rs2615	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
2	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
3	chr8:99037600-99056400	Weak transcription	Lung	lung
4	chr8:99044800-99057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:99045600-99056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:99046200-99056400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:99047000-99056400	Weak transcription	Colonic Mucosa	Colon
8	chr8:99053400-99056000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:99053600-99056000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:99054000-99056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:99054400-99056000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:99054400-99056200	Genic enhancers	Brain Germinal Matrix	brain
13	chr8:99054400-99057400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
14	chr8:99054400-99057400	Transcr. at gene 5' and 3'	A549	lung
15	chr8:99054600-99056000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:99054600-99057200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
17	chr8:99054600-99057200	Transcr. at gene 5' and 3'	K562	blood
18	chr8:99054600-99057200	Transcr. at gene 5' and 3'	NHEK	skin
19	chr8:99054800-99056000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:99054800-99056000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:99054800-99056000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:99054800-99056000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:99054800-99056000	Genic enhancers	Brain Anterior Caudate	brain
24	chr8:99054800-99056000	Genic enhancers	Colon Smooth Muscle	Colon
25	chr8:99054800-99056000	Genic enhancers	Duodenum Mucosa	Duodenum
26	chr8:99054800-99056000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
27	chr8:99054800-99056000	Transcr. at gene 5' and 3'	NHLF	lung
28	chr8:99054800-99056200	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr8:99054800-99056200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr8:99054800-99056200	Genic enhancers	Fetal Lung	lung
31	chr8:99054800-99056400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:99054800-99056400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:99054800-99056400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
34	chr8:99054800-99056400	Enhancers	Brain Angular Gyrus	brain
35	chr8:99054800-99056400	Genic enhancers	Fetal Muscle Leg	muscle
36	chr8:99054800-99057000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
37	chr8:99054800-99057000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:99054800-99057000	Transcr. at gene 5' and 3'	Hela-S3	cervix
39	chr8:99054800-99057200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
40	chr8:99054800-99057400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:99055000-99056200	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr8:99055000-99056200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr8:99055000-99056200	Genic enhancers	Adipose Nuclei	Adipose
44	chr8:99055000-99056200	Genic enhancers	Liver	Liver
45	chr8:99055000-99056200	Genic enhancers	Monocytes-CD14+_RO01746	blood
46	chr8:99055000-99056400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:99055000-99056400	Enhancers	Fetal Brain Male	brain
48	chr8:99055000-99056400	Genic enhancers	Stomach Smooth Muscle	stomach
49	chr8:99055000-99056400	Genic enhancers	NHDF-Ad	bronchial
50	chr8:99055000-99056600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links