Variant report

Variant	rs4759216
Chromosome Location	chr12:56621069-56621070
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56620611..56623587-chr12:56623796..56626645,2	K562	blood:
2	chr12:56614920..56617825-chr12:56620846..56625139,7	MCF-7	breast:
3	chr12:56618671..56621092-chr12:56650040..56652317,2	MCF-7	breast:
4	chr12:56618500..56621755-chr12:56629295..56633775,3	MCF-7	breast:
5	chr12:56552009..56554783-chr12:56618791..56621523,2	K562	blood:
6	chr12:56617987..56620710-chr12:56621012..56624789,4	MCF-7	breast:
7	chr12:56613899..56621490-chr12:56648204..56656770,13	K562	blood:

Variant related genes	Relation type
ENSG00000139540	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000139645	Chromatin interaction
ENSG00000181852	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10876880	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7397951	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56618600-56633800	Weak transcription	Aorta	Aorta
2	chr12:56618800-56621200	Weak transcription	Placenta	Placenta
3	chr12:56618800-56622200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:56618800-56622600	Weak transcription	Thymus	Thymus
5	chr12:56618800-56628200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:56618800-56628600	Weak transcription	Esophagus	oesophagus
7	chr12:56618800-56629800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:56618800-56629800	Weak transcription	Primary T cells from cord blood	blood
9	chr12:56618800-56630200	Weak transcription	Ovary	ovary
10	chr12:56618800-56630400	Weak transcription	Fetal Thymus	thymus
11	chr12:56618800-56631200	Weak transcription	HSMMtube	muscle
12	chr12:56618800-56633000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:56618800-56633000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:56618800-56634600	Weak transcription	Psoas Muscle	Psoas
15	chr12:56618800-56635200	Weak transcription	Small Intestine	intestine
16	chr12:56618800-56635400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:56618800-56637800	Weak transcription	Fetal Kidney	kidney
18	chr12:56619000-56621200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:56619000-56623600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:56619000-56623600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:56619000-56630400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:56619000-56631000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:56619000-56632000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:56619000-56633000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:56619000-56633200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:56619000-56633400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:56619000-56633600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:56619000-56634000	Weak transcription	Primary B cells from cord blood	blood
29	chr12:56619000-56634800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:56619200-56621200	Weak transcription	Right Ventricle	heart
31	chr12:56619200-56622000	Weak transcription	Lung	lung
32	chr12:56619200-56622400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:56619200-56622400	Weak transcription	Fetal Intestine Large	intestine
34	chr12:56619200-56622400	Weak transcription	NHEK	skin
35	chr12:56619200-56622600	Weak transcription	Gastric	stomach
36	chr12:56619200-56623800	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:56619200-56624400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:56619200-56626800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:56619200-56628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:56619200-56630000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:56619200-56630400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:56619200-56631000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:56619200-56631200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:56619200-56631400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:56619200-56632400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:56619200-56633000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:56619200-56633000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:56619200-56633000	Weak transcription	Left Ventricle	heart
49	chr12:56619200-56633400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:56619200-56633400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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