Variant report

Variant	rs12647181
Chromosome Location	chr4:701896-701897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:698332..701237-chr4:701746..703364,2	K562	blood:
2	chr4:701026..702736-chr4:705955..708606,2	K562	blood:
3	chr4:701224..703407-chr4:720806..724106,3	K562	blood:
4	chr4:697549..703820-chr4:770860..775722,9	K562	blood:
5	chr4:700770..703438-chr4:730148..732108,2	K562	blood:
6	chr17:73773135..73777353-chr4:698527..702357,3	MCF-7	breast:
7	chr4:674123..676409-chr4:700716..703557,3	K562	blood:
8	chr4:682326..684833-chr4:700614..702994,2	MCF-7	breast:
9	chr4:700678..704217-chr4:710705..714201,3	MCF-7	breast:
10	chr4:674123..675815-chr4:701035..703606,2	K562	blood:
11	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
12	chr4:679574..681875-chr4:700268..702006,2	K562	blood:
13	chr4:701349..702978-chr4:774069..776105,2	MCF-7	breast:
14	chr4:684700..687240-chr4:700658..702428,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185619	Chromatin interaction
ENSG00000249592	Chromatin interaction
ENSG00000215375	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000169020	Chromatin interaction
ENSG00000169026	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10020614	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13104259	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	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
6	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription 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
9	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
10	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv593209	chr4:686563-747810	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv870115	chr4:692811-733794	Enhancers Weak transcription Genic enhancers Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
15	nsv10414	chr4:696527-701955	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 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	chr4:700000-704400	Enhancers	Fetal Brain Male	brain
2	chr4:700200-702600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:700400-702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:700400-702600	Enhancers	Liver	Liver
5	chr4:700400-702800	Enhancers	Primary B cells from cord blood	blood
6	chr4:700400-702800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr4:700400-703000	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:700400-703400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr4:700400-703600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr4:700600-702400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:700800-702000	Enhancers	Spleen	Spleen
12	chr4:701000-702000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:701000-702000	Enhancers	Fetal Lung	lung
14	chr4:701000-702000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:701000-702000	Active TSS	NHLF	lung
16	chr4:701000-702200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:701000-703000	Enhancers	Fetal Heart	heart
18	chr4:701000-703200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr4:701000-704000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:701000-704000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:701000-705800	Weak transcription	Fetal Kidney	kidney
22	chr4:701200-702000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:701200-702000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:701200-702000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:701200-702000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:701200-702000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:701200-702000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:701200-702200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:701200-702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:701200-702200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:701200-702200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:701200-702200	Enhancers	Brain Cingulate Gyrus	brain
33	chr4:701200-702200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr4:701200-702200	Weak transcription	K562	blood
35	chr4:701200-702400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:701200-702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:701200-702400	Enhancers	Brain Anterior Caudate	brain
38	chr4:701200-702400	Enhancers	NH-A	brain
39	chr4:701200-702800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:701200-702800	Weak transcription	Primary T cells from cord blood	blood
41	chr4:701200-702800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr4:701200-702800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:701200-702800	Enhancers	Stomach Mucosa	stomach
44	chr4:701200-702800	Enhancers	HUVEC	blood vessel
45	chr4:701200-703000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr4:701200-703000	Active TSS	HSMM	muscle
47	chr4:701200-703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:701200-703200	Weak transcription	A549	lung
49	chr4:701200-703400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:701200-703600	Enhancers	Left Ventricle	heart

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