Variant report

Variant	rs3900745
Chromosome Location	chr12:4433195-4433196
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4426548..4433577-chr12:4433933..4442534,18	MCF-7	breast:
2	chr12:4429599..4431806-chr12:4431881..4434524,2	MCF-7	breast:
3	chr12:4430492..4433643-chr12:4433748..4435447,3	K562	blood:

Variant related genes	Relation type
ENSG00000078237	Chromatin interaction
ENSG00000213970	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11615591	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3885283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4553431	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7296163	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9738672	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4429400-4433200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:4430800-4433400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr12:4431000-4433200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:4431000-4433200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:4431000-4433200	Weak transcription	Gastric	stomach
6	chr12:4431000-4433400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:4431000-4433600	Weak transcription	Esophagus	oesophagus
8	chr12:4431000-4439600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:4431200-4433200	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:4431200-4433200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:4431200-4433400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:4431200-4433400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:4431200-4433400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:4431200-4433600	Enhancers	Primary T cells from cord blood	blood
15	chr12:4431200-4443400	Weak transcription	Aorta	Aorta
16	chr12:4431200-4444600	Weak transcription	HSMMtube	muscle
17	chr12:4431200-4446400	Weak transcription	Fetal Stomach	stomach
18	chr12:4431200-4446800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:4431200-4461200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
21	chr12:4431400-4445800	Weak transcription	Fetal Thymus	thymus
22	chr12:4431400-4446200	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:4431400-4446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:4431400-4446400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:4431600-4433200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:4431600-4433200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:4431600-4433200	Enhancers	HepG2	liver
28	chr12:4431600-4433600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:4431600-4433600	Weak transcription	Lung	lung
30	chr12:4431600-4435000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:4431600-4441000	Weak transcription	Brain Angular Gyrus	brain
32	chr12:4431600-4443200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:4431600-4443200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:4431600-4444800	Weak transcription	Brain Germinal Matrix	brain
35	chr12:4431600-4445800	Weak transcription	Liver	Liver
36	chr12:4431600-4446400	Weak transcription	Brain Anterior Caudate	brain
37	chr12:4431600-4446400	Weak transcription	Right Ventricle	heart
38	chr12:4431600-4446400	Weak transcription	Spleen	Spleen
39	chr12:4431600-4446800	Weak transcription	Fetal Intestine Small	intestine
40	chr12:4431600-4449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:4431600-4460400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:4431600-4462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:4431600-4463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:4431600-4465000	Weak transcription	Pancreas	Pancrea
45	chr12:4431800-4433200	Weak transcription	NHLF	lung
46	chr12:4431800-4433400	Enhancers	Primary B cells from cord blood	blood
47	chr12:4431800-4435000	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:4431800-4438800	Weak transcription	HSMM	muscle
49	chr12:4431800-4441200	Weak transcription	Brain Substantia Nigra	brain
50	chr12:4431800-4443000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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