Variant report

Variant	rs11919595
Chromosome Location	chr3:141135126-141135127
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141050917..141052882-chr3:141133782..141136338,2	K562	blood:
2	chr3:141085279..141086915-chr3:141134988..141137791,2	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	chr3:141134160..141135880-chr3:141139081..141141532,2	MCF-7	breast:
7	chr3:141133198..141135160-chr3:141173942..141176696,2	MCF-7	breast:
8	chr3:141118092..141121599-chr3:141132205..141135279,4	MCF-7	breast:
9	chr3:141114505..141117008-chr3:141133562..141135723,2	K562	blood:
10	chr3:141130018..141132073-chr3:141134361..141136631,2	K562	blood:
11	chr3:141133859..141137101-chr3:141144302..141145927,3	MCF-7	breast:
12	chr3:141119704..141122794-chr3:141132983..141135901,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12054156	1.00[ASN][1000 genomes]
rs12633093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1344673	1.00[CEU][hapmap]
rs16851397	1.00[CEU][hapmap]
rs16851419	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs721338	0.81[GIH][hapmap]
rs73872715	1.00[ASN][1000 genomes]
rs73872725	1.00[ASN][1000 genomes]
rs7624559	0.85[CEU][hapmap];0.85[TSI][hapmap]
rs9825379	0.85[CEU][hapmap]
rs9869102	1.00[CEU][hapmap]

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	chr3:141131800-141135600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:141131800-141136200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:141131800-141136200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:141131800-141136200	Genic enhancers	Lung	lung
10	chr3:141131800-141144600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:141131800-141161200	Weak transcription	Thymus	Thymus
12	chr3:141132000-141137400	Genic enhancers	Left Ventricle	heart
13	chr3:141132200-141135400	Genic enhancers	Hela-S3	cervix
14	chr3:141132200-141135400	Genic enhancers	HUVEC	blood vessel
15	chr3:141132200-141135600	Enhancers	Right Atrium	heart
16	chr3:141132200-141135800	Genic enhancers	Duodenum Mucosa	Duodenum
17	chr3:141132200-141135800	Genic enhancers	NHLF	lung
18	chr3:141132200-141136400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:141132200-141138000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:141132200-141138600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr3:141132200-141141000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:141132200-141144400	Strong transcription	Fetal Intestine Small	intestine
23	chr3:141132200-141144800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:141132200-141171000	Weak transcription	Primary B cells from cord blood	blood
25	chr3:141132400-141135600	Strong transcription	Colonic Mucosa	Colon
26	chr3:141132400-141135800	Genic enhancers	Brain Anterior Caudate	brain
27	chr3:141132400-141135800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:141132400-141136200	Genic enhancers	NHDF-Ad	bronchial
29	chr3:141132400-141137600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:141132400-141139000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:141132600-141135600	Genic enhancers	Brain Cingulate Gyrus	brain
32	chr3:141132600-141136400	Strong transcription	Fetal Lung	lung
33	chr3:141132600-141136600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:141132600-141139000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:141132600-141139200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:141132800-141135400	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr3:141132800-141136200	Strong transcription	Fetal Brain Female	brain
38	chr3:141132800-141137800	Strong transcription	HSMMtube	muscle
39	chr3:141132800-141138400	Strong transcription	HSMM	muscle
40	chr3:141133000-141135200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:141133000-141135200	Genic enhancers	Brain Angular Gyrus	brain
42	chr3:141133000-141135600	Genic enhancers	Brain Inferior Temporal Lobe	brain
43	chr3:141133000-141135800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr3:141133000-141139000	Genic enhancers	Right Ventricle	heart
45	chr3:141133200-141138400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:141133400-141135600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr3:141133400-141136400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr3:141133400-141137000	Strong transcription	Placenta	Placenta
49	chr3:141133400-141138400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:141133600-141135200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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