Variant report

Variant	rs3809129
Chromosome Location	chr12:56711371-56711372
allele	C/T
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	chr12:56650654..56653718-chr12:56708513..56712442,3	K562	blood:
2	chr12:56705654..56712950-chr12:56716015..56720160,8	MCF-7	breast:
3	chr12:56709258..56711619-chr12:56711666..56713846,2	MCF-7	breast:
4	chr12:56707850..56716783-chr12:56721562..56730442,13	MCF-7	breast:
5	chr12:56708282..56711640-chr12:56860573..56864710,5	K562	blood:
6	chr12:56690986..56698275-chr12:56706607..56711958,20	MCF-7	breast:
7	chr12:56710492..56713076-chr12:56713802..56716464,2	MCF-7	breast:
8	chr12:56708394..56711484-chr12:56860870..56863906,7	MCF-7	breast:
9	chr12:56707486..56713546-chr12:56723426..56730112,22	MCF-7	breast:
10	chr12:56659449..56661504-chr12:56708553..56711382,4	K562	blood:
11	chr12:56692256..56696973-chr12:56707335..56712231,9	K562	blood:
12	chr12:56708721..56711382-chr12:56864532..56867166,3	K562	blood:
13	chr12:56690402..56700610-chr12:56705161..56712229,20	K562	blood:
14	chr12:56708683..56714635-chr12:56725804..56730296,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135473	Chromatin interaction
ENSG00000176422	Chromatin interaction
ENSG00000135469	Chromatin interaction
ENSG00000135423	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000139645	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000135517	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10783780	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11171792	0.87[AFR][1000 genomes]
rs12422499	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs872103	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56710200-56712800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:56710200-56716600	Weak transcription	Small Intestine	intestine
3	chr12:56710400-56712000	Weak transcription	Spleen	Spleen
4	chr12:56710400-56712200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:56710400-56712600	Weak transcription	Aorta	Aorta
6	chr12:56710400-56712600	Weak transcription	Gastric	stomach
7	chr12:56710400-56712800	Weak transcription	Esophagus	oesophagus
8	chr12:56710400-56712800	Weak transcription	Lung	lung
9	chr12:56710400-56713000	Weak transcription	Ovary	ovary
10	chr12:56710400-56713200	Weak transcription	NHDF-Ad	bronchial
11	chr12:56710600-56712000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:56710600-56712000	Weak transcription	Adipose Nuclei	Adipose
13	chr12:56710600-56712000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:56710600-56712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:56710600-56712200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:56710600-56712600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:56710600-56712600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:56710600-56712600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:56710600-56712600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:56710600-56712600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:56710600-56712600	Weak transcription	Right Ventricle	heart
22	chr12:56710600-56712600	Weak transcription	Thymus	Thymus
23	chr12:56710600-56712800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:56710600-56712800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:56710600-56712800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:56710600-56712800	Weak transcription	Colonic Mucosa	Colon
27	chr12:56710600-56712800	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:56710600-56712800	Weak transcription	Fetal Kidney	kidney
29	chr12:56710600-56712800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:56710600-56712800	Weak transcription	A549	lung
31	chr12:56710600-56713000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:56710600-56713000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:56710600-56713400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:56710600-56713400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:56710600-56715600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:56710600-56715800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:56710600-56715800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:56710600-56715800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:56710600-56716200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:56710600-56716200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:56710600-56716400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:56710600-56717400	Weak transcription	Fetal Heart	heart
43	chr12:56710600-56717800	Weak transcription	Stomach Mucosa	stomach
44	chr12:56710600-56718200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:56710600-56726800	Weak transcription	NH-A	brain
46	chr12:56710800-56711400	Weak transcription	Brain Substantia Nigra	brain
47	chr12:56710800-56711600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:56710800-56711600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:56710800-56711600	Genic enhancers	K562	blood
50	chr12:56710800-56712000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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