Variant report

Variant	rs11917068
Chromosome Location	chr3:194872038-194872039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:194868265-194872140	GM12891	blood:	n/a	n/a
2	POLR2A	chr3:194868269-194872203	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr3:194868355-194872209	HUVEC	blood vessel:	n/a	n/a
4	NFATC1	chr3:194870293-194872040	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:194870114-194872071	GM19193	blood:	n/a	n/a
6	POLR2A	chr3:194868262-194872259	HUVEC	blood vessel:	n/a	n/a
7	PML	chr3:194870661-194872069	GM12878	blood:	n/a	n/a
8	NFIC	chr3:194870731-194872086	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:194869872-194872144	GM12878	blood:	n/a	n/a
10	MAZ	chr3:194870628-194872279	IMR90	lung:	n/a	chr3:194871800-194871810
11	POLR2A	chr3:194868149-194872233	HUVEC	blood vessel:	n/a	n/a
12	MTA3	chr3:194868157-194872051	GM12878	blood:	n/a	n/a
13	POLR2A	chr3:194870685-194872095	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:194871135..194873773-chr3:194909112..194911185,2	K562	blood:
2	chr3:194838435..194840732-chr3:194871464..194873939,2	K562	blood:
3	chr3:194869726..194872527-chr3:194883949..194885510,2	K562	blood:
4	chr3:194870262..194872274-chr3:194880520..194882642,2	K562	blood:
5	chr3:194870603..194872968-chr3:194930308..194933039,3	K562	blood:
6	chr3:194867331..194869999-chr3:194871717..194874050,2	MCF-7	breast:
7	chr3:194870056..194873329-chr3:194873550..194878227,7	K562	blood:

No data

Variant related genes	Relation type
RN7SL36P	TF binding region
ENSG00000173950	Chromatin interaction
ENSG00000244314	Chromatin interaction
ENSG00000230266	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11721261	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1552893	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2172695	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2279630	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28573813	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4266129	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4300953	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4645095	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4677663	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4677812	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4677818	0.87[AFR][1000 genomes]
rs58370605	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60329099	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61218008	0.83[EUR][1000 genomes]
rs6794540	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6797160	0.82[ASN][1000 genomes]
rs7612579	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7639698	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7644678	0.81[EUR][1000 genomes]
rs7646496	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs903310	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs950257	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9848862	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
12	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
15	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
16	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194841000-194872800	Weak transcription	HSMMtube	muscle
2	chr3:194861000-194881000	Weak transcription	Hela-S3	cervix
3	chr3:194861200-194872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:194861800-194872800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:194861800-194875000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:194862400-194897800	Weak transcription	Dnd41	blood
7	chr3:194867800-194872400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:194868200-194872200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr3:194868200-194872200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:194868200-194877800	Enhancers	Fetal Stomach	stomach
11	chr3:194868400-194877400	Enhancers	Fetal Heart	heart
12	chr3:194868800-194875000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:194868800-194885400	Enhancers	Fetal Muscle Leg	muscle
14	chr3:194869600-194876400	Enhancers	NHDF-Ad	bronchial
15	chr3:194869800-194876600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:194870200-194872200	Enhancers	Lung	lung
17	chr3:194870800-194877600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:194871000-194872200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:194871000-194873000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:194871000-194877200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:194871000-194880800	Enhancers	HUVEC	blood vessel
22	chr3:194871200-194873600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:194871400-194872200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:194871400-194875800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:194871400-194877800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:194871400-194887400	Enhancers	Primary hematopoietic stem cells	blood
27	chr3:194871600-194872200	Enhancers	Primary B cells from cord blood	blood
28	chr3:194871600-194872200	Enhancers	Fetal Intestine Small	intestine
29	chr3:194871600-194872200	Enhancers	Fetal Thymus	thymus
30	chr3:194871600-194872200	Enhancers	Right Atrium	heart
31	chr3:194871600-194872200	Enhancers	HepG2	liver
32	chr3:194871600-194872400	Enhancers	Brain Hippocampus Middle	brain
33	chr3:194871600-194872400	Enhancers	Placenta	Placenta
34	chr3:194871600-194872400	Enhancers	Left Ventricle	heart
35	chr3:194871600-194872400	Enhancers	NH-A	brain
36	chr3:194871600-194872600	Weak transcription	Fetal Kidney	kidney
37	chr3:194871600-194873000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:194871600-194873400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr3:194871600-194873600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:194871600-194874600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:194871600-194875000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr3:194871600-194875200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:194871600-194875800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:194871600-194876000	Enhancers	NHEK	skin
45	chr3:194871600-194877600	Enhancers	Fetal Intestine Large	intestine
46	chr3:194871600-194881200	Weak transcription	Liver	Liver
47	chr3:194871800-194872200	Enhancers	Primary B cells from peripheral blood	blood
48	chr3:194871800-194872200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr3:194871800-194872200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:194871800-194872200	Enhancers	Colonic Mucosa	Colon

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