Variant report

Variant	rs12651507
Chromosome Location	chr4:48270584-48270585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48270358..48273390-chr4:48340605..48344777,4	MCF-7	breast:
2	chr4:48270141..48273598-chr4:48341900..48344865,7	K562	blood:
3	chr4:48200101..48201896-chr4:48269773..48271789,2	K562	blood:
4	chr4:48191298..48193401-chr4:48269923..48271820,2	K562	blood:
5	chr4:48253624..48256243-chr4:48267800..48270613,3	MCF-7	breast:
6	chr4:48264879..48267835-chr4:48269527..48271829,4	K562	blood:
7	chr4:48269261..48273807-chr4:48342628..48344865,6	K562	blood:

Variant related genes	Relation type
ENSG00000109171	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10011558	0.93[AFR][1000 genomes]
rs10022525	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17574833	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28677107	0.82[AFR][1000 genomes]
rs4695363	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55990756	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7678145	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9994779	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh 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
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv461357	chr4:48248258-48274152	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv594119	chr4:48248258-48274152	Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv461358	chr4:48251916-48274152	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv594120	chr4:48251916-48274152	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:48257400-48270600	Weak transcription	Right Ventricle	heart
3	chr4:48257400-48271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:48257400-48271200	Weak transcription	Esophagus	oesophagus
5	chr4:48257600-48271200	Weak transcription	Gastric	stomach
6	chr4:48258000-48270800	Weak transcription	Fetal Intestine Small	intestine
7	chr4:48258400-48271200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:48263200-48270600	Weak transcription	Thymus	Thymus
9	chr4:48263800-48270600	Weak transcription	Primary B cells from cord blood	blood
10	chr4:48263800-48271200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:48265200-48271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:48267600-48271000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:48268200-48270800	Enhancers	Liver	Liver
14	chr4:48268800-48270600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:48269000-48270600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:48269200-48270800	Flanking Active TSS	K562	blood
17	chr4:48269600-48270600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr4:48269600-48271000	Enhancers	Primary B cells from peripheral blood	blood
19	chr4:48269600-48271000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr4:48269600-48271600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr4:48269600-48271600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:48269800-48271000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:48269800-48272800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:48270000-48270600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:48270000-48270800	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:48270000-48270800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:48270000-48271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:48270000-48271000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:48270000-48271200	Weak transcription	Pancreas	Pancrea
30	chr4:48270000-48271400	Weak transcription	Lung	lung
31	chr4:48270000-48271400	Weak transcription	Spleen	Spleen
32	chr4:48270000-48272400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr4:48270200-48270600	Enhancers	Hela-S3	cervix
34	chr4:48270200-48270800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:48270200-48270800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:48270200-48270800	Enhancers	Fetal Intestine Large	intestine
37	chr4:48270200-48271000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr4:48270200-48271000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:48270200-48271000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr4:48270200-48272200	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr4:48270400-48270600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:48270400-48270600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr4:48270400-48270600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr4:48270400-48271200	Enhancers	Fetal Heart	heart
45	chr4:48270400-48271400	Weak transcription	Small Intestine	intestine
46	chr4:48270400-48272200	Active TSS	GM12878-XiMat	blood

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