Variant report

Variant	rs45622743
Chromosome Location	chr7:99042024-99042025
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	chr7:99041869-99042270	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000228335	TF binding region
CPSF4	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1002172	0.84[EUR][1000 genomes]
rs1004387	0.83[EUR][1000 genomes]
rs10225314	0.84[EUR][1000 genomes]
rs10240199	0.80[ASN][1000 genomes]
rs10244158	0.84[ASN][1000 genomes]
rs10265385	0.86[ASN][1000 genomes]
rs10271049	0.84[ASN][1000 genomes]
rs1043466	0.83[ASN][1000 genomes]
rs10464604	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11539770	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12538826	0.98[ASN][1000 genomes]
rs13227795	0.83[ASN][1000 genomes]
rs13240600	0.83[ASN][1000 genomes]
rs13437771	0.83[ASN][1000 genomes]
rs17161652	0.92[EUR][1000 genomes]
rs17161677	1.00[EUR][1000 genomes]
rs17161698	1.00[EUR][1000 genomes]
rs17161766	0.92[EUR][1000 genomes]
rs17161768	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17161769	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17161771	0.84[EUR][1000 genomes]
rs17161772	0.84[EUR][1000 genomes]
rs17161774	0.92[EUR][1000 genomes]
rs17161780	0.92[EUR][1000 genomes]
rs17161783	0.92[EUR][1000 genomes]
rs1980307	0.83[ASN][1000 genomes]
rs1985453	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2057906	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2107705	1.00[EUR][1000 genomes]
rs2240384	0.84[ASN][1000 genomes]
rs2240385	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2269985	1.00[EUR][1000 genomes]
rs2280600	0.83[ASN][1000 genomes]
rs2280601	0.83[ASN][1000 genomes]
rs2404322	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3764815	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779354	0.83[ASN][1000 genomes]
rs3800960	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3823812	0.92[EUR][1000 genomes]
rs45492098	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45540134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646446	0.92[EUR][1000 genomes]
rs4646447	0.92[EUR][1000 genomes]
rs4646449	0.92[EUR][1000 genomes]
rs4646453	0.92[EUR][1000 genomes]
rs4646456	0.92[EUR][1000 genomes]
rs58024720	0.84[EUR][1000 genomes]
rs58222677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58421977	1.00[EUR][1000 genomes]
rs59986060	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60301933	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60865030	0.92[EUR][1000 genomes]
rs61159815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61337492	0.92[EUR][1000 genomes]
rs61402640	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61543997	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6962772	0.84[ASN][1000 genomes]
rs72494451	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72494452	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73709637	1.00[EUR][1000 genomes]
rs73709641	1.00[EUR][1000 genomes]
rs7794682	0.84[ASN][1000 genomes]
rs7794705	0.82[ASN][1000 genomes]
rs883403	0.84[ASN][1000 genomes]
rs940336	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer 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
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99037800-99042400	Weak transcription	Aorta	Aorta
2	chr7:99037800-99046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:99038000-99042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:99038000-99042400	Weak transcription	Fetal Kidney	kidney
5	chr7:99038000-99042600	Weak transcription	HUVEC	blood vessel
6	chr7:99038000-99045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:99038000-99054600	Weak transcription	Stomach Mucosa	stomach
8	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
9	chr7:99038200-99042200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:99038200-99042200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:99038200-99042200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:99038200-99042200	Weak transcription	Brain Anterior Caudate	brain
13	chr7:99038200-99042400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:99038200-99042400	Weak transcription	Esophagus	oesophagus
15	chr7:99038200-99042400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:99038200-99042400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:99038200-99042600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:99038200-99042600	Weak transcription	Small Intestine	intestine
19	chr7:99038200-99043400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:99038200-99043600	Weak transcription	Fetal Brain Male	brain
21	chr7:99038200-99045600	Weak transcription	Psoas Muscle	Psoas
22	chr7:99038200-99056200	Weak transcription	Fetal Heart	heart
23	chr7:99038200-99061800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:99038200-99061800	Strong transcription	Fetal Intestine Small	intestine
25	chr7:99038200-99062000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:99038200-99062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:99038200-99062400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:99038400-99062400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:99038600-99042200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:99038600-99042200	Weak transcription	GM12878-XiMat	blood
31	chr7:99038600-99058000	Strong transcription	NHEK	skin
32	chr7:99038600-99058600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:99038600-99062400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:99038800-99043600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:99038800-99047600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:99038800-99058000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:99039000-99042200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:99039000-99055000	Strong transcription	Placenta	Placenta
39	chr7:99039000-99059000	Strong transcription	Fetal Intestine Large	intestine
40	chr7:99039200-99042200	Weak transcription	A549	lung
41	chr7:99039200-99042400	Weak transcription	Pancreas	Pancrea
42	chr7:99039200-99042400	Weak transcription	Right Ventricle	heart
43	chr7:99039200-99045600	Weak transcription	Colonic Mucosa	Colon
44	chr7:99039200-99049200	Strong transcription	Hela-S3	cervix
45	chr7:99039200-99054000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:99039200-99058000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:99039200-99058000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:99039200-99058200	Strong transcription	Dnd41	blood
49	chr7:99039200-99061600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:99039400-99042200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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