Variant report

Variant	rs12285596
Chromosome Location	chr11:46373593-46373594
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46373172..46374329-chr11:46388720..46389801,4	K562	blood:
2	chr11:46372835..46374404-chr11:46388233..46390300,15	MCF-7	breast:
3	chr11:46373233..46374573-chr11:46384927..46385770,7	MCF-7	breast:
4	chr11:46263199..46264892-chr11:46372073..46373594,2	MCF-7	breast:
5	chr11:46368689..46375486-chr11:46400770..46406098,12	K562	blood:
6	chr11:46373398..46374341-chr11:46388814..46389666,5	MCF-7	breast:
7	chr11:46373344..46374865-chr11:46390768..46391595,4	MCF-7	breast:
8	chr11:46373104..46374080-chr11:46559127..46559801,2	MCF-7	breast:
9	chr11:46372075..46374897-chr11:46564575..46567460,2	K562	blood:
10	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
11	chr11:46373372..46374342-chr11:46559117..46559660,2	K562	blood:
12	chr11:46309562..46312239-chr11:46372059..46374065,2	K562	blood:
13	chr11:46371280..46374024-chr11:46406319..46409104,3	K562	blood:
14	chr11:46373005..46374579-chr11:46384589..46385813,14	MCF-7	breast:
15	chr11:46369907..46371669-chr11:46372067..46373780,2	MCF-7	breast:
16	chr11:46372991..46374307-chr11:46385236..46386241,3	MCF-7	breast:
17	chr11:46370537..46375565-chr11:46394528..46400368,5	MCF-7	breast:
18	chr11:46373454..46374263-chr11:46410665..46411382,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000180720	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11038876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038901	1.00[AMR][1000 genomes]
rs11821531	1.00[AMR][1000 genomes]
rs11827702	1.00[AMR][1000 genomes]
rs11827909	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290327	1.00[AMR][1000 genomes]
rs2229163	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129348	1.00[AMR][1000 genomes]
rs7942614	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46370000-46384000	Weak transcription	Fetal Kidney	kidney
2	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
3	chr11:46370200-46375800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:46370400-46373600	Enhancers	Pancreas	Pancrea
5	chr11:46370400-46374400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:46370400-46375000	Enhancers	Gastric	stomach
7	chr11:46370400-46375200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:46370400-46375200	Enhancers	Left Ventricle	heart
9	chr11:46370400-46382400	Weak transcription	Psoas Muscle	Psoas
10	chr11:46370400-46384000	Weak transcription	A549	lung
11	chr11:46370600-46374200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:46370600-46382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:46370800-46373600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:46370800-46373600	Enhancers	HMEC	breast
15	chr11:46370800-46375000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:46370800-46375000	Enhancers	Adipose Nuclei	Adipose
17	chr11:46370800-46375000	Enhancers	Fetal Heart	heart
18	chr11:46370800-46375200	Genic enhancers	Fetal Intestine Small	intestine
19	chr11:46370800-46375400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:46370800-46378200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:46370800-46382400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:46370800-46382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:46370800-46382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:46371000-46374800	Weak transcription	Osteobl	bone
25	chr11:46371000-46375800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:46371000-46376600	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:46371000-46378400	Genic enhancers	Monocytes-CD14+_RO01746	blood
28	chr11:46371000-46382400	Weak transcription	HSMMtube	muscle
29	chr11:46371000-46382400	Weak transcription	HUVEC	blood vessel
30	chr11:46371200-46373600	Enhancers	Brain Angular Gyrus	brain
31	chr11:46371200-46373600	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr11:46371200-46377800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:46371200-46378200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:46371400-46376200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:46371400-46380200	Genic enhancers	Fetal Thymus	thymus
36	chr11:46371400-46382400	Weak transcription	NH-A	brain
37	chr11:46371600-46373800	Genic enhancers	Thymus	Thymus
38	chr11:46371600-46375000	Weak transcription	NHLF	lung
39	chr11:46371600-46375600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
40	chr11:46371600-46376800	Genic enhancers	Dnd41	blood
41	chr11:46371800-46373800	Enhancers	Brain Substantia Nigra	brain
42	chr11:46371800-46374000	Enhancers	Fetal Muscle Leg	muscle
43	chr11:46372200-46373800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:46372200-46374400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:46372200-46374400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:46372200-46374400	Enhancers	Right Ventricle	heart
47	chr11:46372200-46374600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:46372200-46374600	Enhancers	Right Atrium	heart
49	chr11:46372200-46375800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr11:46372400-46373600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood

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