Variant report

Variant	rs922697
Chromosome Location	chr4:1165741-1165742
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:1)
LncRNA
region (count:1)
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	GABPA	chr4:1165491-1166425	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr4:1165160-1166154	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:1159180-1166648	PFSK-1	brain:	n/a	n/a
4	GABPA	chr4:1165511-1165943	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr4:1164540-1165835	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr4:1165680-1165830	HCPEpiC	choroid plexus:	n/a	n/a
7	POLR2A	chr4:1165041-1165790	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1160471..1164177-chr4:1164804..1166602,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092535.1-1	chr4:1165314-1165862	NONHSAT094672

No data

Variant related genes	Relation type
SPON2	TF binding region
ENSG00000273179	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10013662	1.00[ASW][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11931513	1.00[EUR][1000 genomes]
rs11932895	1.00[EUR][1000 genomes]
rs1250104	1.00[CEU][hapmap]
rs1272043	1.00[ASW][hapmap]
rs13115935	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1383658	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1383659	0.94[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1481168	1.00[ASW][hapmap];0.88[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1680075	1.00[EUR][1000 genomes]
rs1680082	1.00[EUR][1000 genomes]
rs17164618	1.00[EUR][1000 genomes]
rs1732105	1.00[EUR][1000 genomes]
rs1871758	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2127911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28750743	0.89[ASW][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap]
rs34082974	1.00[EUR][1000 genomes]
rs35148574	1.00[CEU][hapmap]
rs4246689	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4336168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4465987	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974567	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974580	1.00[EUR][1000 genomes]
rs4974581	1.00[EUR][1000 genomes]
rs4974634	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974635	0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4974636	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974645	1.00[ASW][hapmap]
rs57461362	1.00[EUR][1000 genomes]
rs59318613	1.00[EUR][1000 genomes]
rs59669372	1.00[EUR][1000 genomes]
rs60410862	1.00[EUR][1000 genomes]
rs6818213	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6834402	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6835204	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6836809	1.00[ASW][hapmap];0.85[LWK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6836952	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73069991	1.00[EUR][1000 genomes]
rs73069994	1.00[EUR][1000 genomes]
rs73071910	1.00[EUR][1000 genomes]
rs73071925	1.00[EUR][1000 genomes]
rs73073722	1.00[EUR][1000 genomes]
rs73073725	1.00[EUR][1000 genomes]
rs73073727	1.00[EUR][1000 genomes]
rs73073729	1.00[EUR][1000 genomes]
rs73796061	1.00[EUR][1000 genomes]
rs7660109	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7676912	1.00[ASW][hapmap];0.84[LWK][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7691582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997694	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv536980	chr4:827866-1167377	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	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
5	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	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
8	nsv1005990	chr4:1015652-1167619	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv519106	chr4:1158991-1174861	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1162000-1166200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:1163400-1165800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:1164000-1166000	Transcr. at gene 5' and 3'	NHLF	lung
4	chr4:1164000-1167000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
5	chr4:1164200-1166400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:1164200-1167200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
7	chr4:1164400-1165800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:1164400-1166200	Bivalent Enhancer	Fetal Brain Male	brain
9	chr4:1164400-1167200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:1164600-1165800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr4:1164600-1166200	Flanking Active TSS	Right Ventricle	heart
12	chr4:1164600-1166400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:1164600-1166400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
14	chr4:1164600-1166600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr4:1164600-1166600	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr4:1164600-1166600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr4:1164600-1166800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:1164800-1166600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
19	chr4:1164800-1166600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:1164800-1166800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:1164800-1166800	Active TSS	NHDF-Ad	bronchial
22	chr4:1164800-1167000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr4:1165000-1165800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:1165000-1165800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
25	chr4:1165000-1166000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr4:1165000-1166000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr4:1165000-1166000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
28	chr4:1165000-1166000	Weak transcription	Fetal Heart	heart
29	chr4:1165000-1166200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr4:1165000-1166400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr4:1165000-1166400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
32	chr4:1165000-1166400	Active TSS	Right Atrium	heart
33	chr4:1165000-1166600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr4:1165000-1166800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr4:1165000-1166800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr4:1165000-1167200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
37	chr4:1165200-1165800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:1165200-1165800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
39	chr4:1165200-1165800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
40	chr4:1165200-1165800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:1165200-1165800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:1165200-1165800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:1165200-1165800	Bivalent/Poised TSS	Fetal Kidney	kidney
44	chr4:1165200-1166000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:1165200-1166000	Flanking Bivalent TSS/Enh	Placenta	Placenta
46	chr4:1165200-1166200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:1165200-1166200	Flanking Active TSS	Esophagus	oesophagus
48	chr4:1165200-1166200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:1165200-1166200	Bivalent Enhancer	GM12878-XiMat	blood
50	chr4:1165200-1166400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

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