Variant report

Variant	rs12633093
Chromosome Location	chr3:141134474-141134475
allele	C/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141127732..141130108-chr3:141132601..141134481,2	MCF-7	breast:
2	chr3:141050917..141052882-chr3:141133782..141136338,2	K562	blood:
3	chr3:141125595..141129103-chr3:141133581..141136725,3	K562	blood:
4	chr3:141133473..141135516-chr3:141154520..141157285,2	K562	blood:
5	chr3:141134135..141137819-chr3:141137972..141141592,4	K562	blood:
6	chr3:141085385..141089817-chr3:141128434..141134875,8	K562	blood:
7	chr3:141134160..141135880-chr3:141139081..141141532,2	MCF-7	breast:
8	chr3:141133198..141135160-chr3:141173942..141176696,2	MCF-7	breast:
9	chr3:141118092..141121599-chr3:141132205..141135279,4	MCF-7	breast:
10	chr3:141114505..141117008-chr3:141133562..141135723,2	K562	blood:
11	chr3:141130018..141132073-chr3:141134361..141136631,2	K562	blood:
12	chr3:141133859..141137101-chr3:141144302..141145927,3	MCF-7	breast:
13	chr3:141119704..141122794-chr3:141132983..141135901,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249417	Chromatin interaction
ENSG00000177311	Chromatin interaction

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

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

rs_ID	r²[population]
rs11919595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12054156	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16851419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16851423	0.94[AMR][1000 genomes]
rs4683604	0.81[AMR][1000 genomes]
rs721338	1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs73872715	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73872725	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141126800-141138000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:141131200-141139200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:141131600-141138800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:141131600-141144400	Strong transcription	Fetal Intestine Large	intestine
5	chr3:141131600-141145200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:141131800-141134800	Genic enhancers	Osteobl	bone
7	chr3:141131800-141135600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:141131800-141136200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:141131800-141136200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:141131800-141136200	Genic enhancers	Lung	lung
11	chr3:141131800-141144600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:141131800-141161200	Weak transcription	Thymus	Thymus
13	chr3:141132000-141134600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:141132000-141137400	Genic enhancers	Left Ventricle	heart
15	chr3:141132200-141135000	Genic enhancers	Brain Hippocampus Middle	brain
16	chr3:141132200-141135400	Genic enhancers	Hela-S3	cervix
17	chr3:141132200-141135400	Genic enhancers	HUVEC	blood vessel
18	chr3:141132200-141135600	Enhancers	Right Atrium	heart
19	chr3:141132200-141135800	Genic enhancers	Duodenum Mucosa	Duodenum
20	chr3:141132200-141135800	Genic enhancers	NHLF	lung
21	chr3:141132200-141136400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:141132200-141138000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:141132200-141138600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr3:141132200-141141000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:141132200-141144400	Strong transcription	Fetal Intestine Small	intestine
26	chr3:141132200-141144800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:141132200-141171000	Weak transcription	Primary B cells from cord blood	blood
28	chr3:141132400-141134600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:141132400-141134600	Strong transcription	Brain Germinal Matrix	brain
30	chr3:141132400-141134600	Genic enhancers	Colon Smooth Muscle	Colon
31	chr3:141132400-141135600	Strong transcription	Colonic Mucosa	Colon
32	chr3:141132400-141135800	Genic enhancers	Brain Anterior Caudate	brain
33	chr3:141132400-141135800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:141132400-141136200	Genic enhancers	NHDF-Ad	bronchial
35	chr3:141132400-141137600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:141132400-141139000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:141132600-141134800	Genic enhancers	Rectal Mucosa Donor 29	rectum
38	chr3:141132600-141135600	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr3:141132600-141136400	Strong transcription	Fetal Lung	lung
40	chr3:141132600-141136600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
41	chr3:141132600-141139000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:141132600-141139200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:141132800-141134600	Genic enhancers	Fetal Kidney	kidney
44	chr3:141132800-141134600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:141132800-141135400	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr3:141132800-141136200	Strong transcription	Fetal Brain Female	brain
47	chr3:141132800-141137800	Strong transcription	HSMMtube	muscle
48	chr3:141132800-141138400	Strong transcription	HSMM	muscle
49	chr3:141133000-141134600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:141133000-141135000	Strong transcription	Primary hematopoietic stem cells	blood

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