Variant report

Variant	rs2306475
Chromosome Location	chr4:1207881-1207882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:1207412-1207983	K562	blood:	n/a	n/a
2	POLR2A	chr4:1207805-1208341	K562	blood:	n/a	n/a
3	POLR2A	chr4:1205734-1209521	K562	blood:	n/a	n/a
4	POLR2A	chr4:1207828-1208586	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:1207853-1207923	K562	blood:	n/a	n/a
6	POLR2A	chr4:1205756-1209476	HL-60	blood:	n/a	n/a
7	POLR2A	chr4:1207696-1208192	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1198351..1202176-chr4:1203916..1208029,5	K562	blood:
2	chr4:1207031..1209440-chr4:1241875..1243998,2	K562	blood:
3	chr4:1205834..1208746-chr4:1226457..1228401,2	K562	blood:
4	chr4:1199021..1202194-chr4:1205945..1209496,3	K562	blood:
5	chr4:1207031..1209938-chr4:1240960..1243998,4	K562	blood:

No data

Variant related genes	Relation type
CTBP1	TF binding region
ENSG00000196810	Chromatin interaction
ENSG00000159674	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1250089	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1250092	0.91[EUR][1000 genomes]
rs1250105	0.91[EUR][1000 genomes]
rs1250106	0.87[EUR][1000 genomes]
rs1250108	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1250118	0.91[EUR][1000 genomes]
rs1680056	0.92[EUR][1000 genomes]
rs35376712	0.90[EUR][1000 genomes]
rs4993865	0.92[EUR][1000 genomes]
rs6821834	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
5	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription 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 miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
7	nsv878329	chr4:1147407-1254930	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv593276	chr4:1159680-1227469	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv461151	chr4:1159680-1236840	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv593277	chr4:1159680-1236840	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv878331	chr4:1159680-1254930	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS 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	70 gene(s)	inside rSNPs	diseases
14	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
15	nsv461153	chr4:1174861-1254930	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
16	nsv593279	chr4:1174861-1254930	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
17	nsv461154	chr4:1179213-1254930	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	nsv593280	chr4:1179213-1254930	Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	nsv878332	chr4:1179213-1254930	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases
20	nsv997971	chr4:1191256-1518521	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	67 gene(s)	inside rSNPs	diseases
21	nsv878333	chr4:1193832-1254930	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
22	nsv461155	chr4:1203265-1352685	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
23	nsv593281	chr4:1203265-1352685	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
24	nsv966246	chr4:1205017-1210824	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2306475	UVSSA	cis	Skin Sun Exposed Lower leg	GTEx
rs2306475	CTBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1195200-1214600	Weak transcription	A549	lung
2	chr4:1196400-1209800	Weak transcription	Primary B cells from cord blood	blood
3	chr4:1198000-1211200	Genic enhancers	Fetal Stomach	stomach
4	chr4:1201600-1211600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:1201800-1209000	Strong transcription	Fetal Thymus	thymus
6	chr4:1201800-1210000	Strong transcription	Thymus	Thymus
7	chr4:1202200-1209000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:1202400-1208000	Genic enhancers	Pancreas	Pancrea
9	chr4:1202400-1210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:1202600-1210200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:1202800-1210200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:1202800-1218000	Weak transcription	Fetal Brain Male	brain
13	chr4:1203000-1209600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:1203000-1210200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:1203200-1217800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:1203400-1209200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:1203400-1210200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:1203400-1213000	Weak transcription	Fetal Kidney	kidney
19	chr4:1203800-1223000	Strong transcription	Osteobl	bone
20	chr4:1204000-1209400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:1204000-1211600	Genic enhancers	Esophagus	oesophagus
22	chr4:1204000-1218000	Weak transcription	K562	blood
23	chr4:1204200-1208000	Strong transcription	Primary T cells from cord blood	blood
24	chr4:1204200-1208400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:1204200-1209200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:1204200-1209200	Strong transcription	Dnd41	blood
27	chr4:1204200-1212600	Genic enhancers	Fetal Muscle Leg	muscle
28	chr4:1204400-1208400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:1204400-1209200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:1204400-1210000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:1204400-1210400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr4:1204400-1210800	Strong transcription	Fetal Intestine Large	intestine
33	chr4:1204400-1211600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:1204400-1211600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:1204400-1211600	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr4:1204400-1212000	Strong transcription	NHEK	skin
37	chr4:1204400-1227200	Strong transcription	Fetal Intestine Small	intestine
38	chr4:1204400-1235800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:1204600-1208400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr4:1204600-1209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:1204600-1209000	Weak transcription	NH-A	brain
42	chr4:1204600-1210000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:1204600-1210200	Weak transcription	Fetal Heart	heart
44	chr4:1204600-1220400	Strong transcription	Liver	Liver
45	chr4:1204600-1236200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:1204800-1208600	Strong transcription	GM12878-XiMat	blood
47	chr4:1204800-1211000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:1204800-1212000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr4:1204800-1213800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:1204800-1226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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