Variant report

Variant	rs6484494
Chromosome Location	chr11:8822514-8822515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8715578..8718169-chr11:8819916..8823970,3	MCF-7	breast:
2	chr11:8709766..8713200-chr11:8820077..8823864,3	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12224436	0.80[YRI][hapmap]
rs16905815	0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4929911	0.82[YRI][hapmap]
rs56210429	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56388022	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57145477	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57212881	0.84[AFR][1000 genomes]
rs58419940	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59279926	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59314560	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59524952	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59974779	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60980006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053134	0.84[AFR][1000 genomes]
rs74053135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053166	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053169	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053172	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053175	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053180	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053189	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054210	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054216	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054218	1.00[AMR][1000 genomes]
rs7944416	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7944777	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945378	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949286	0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv553447	chr11:8792622-8825966	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:8800800-8825800	Weak transcription	Brain Angular Gyrus	brain
3	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
5	chr11:8809000-8830200	Weak transcription	Fetal Brain Male	brain
6	chr11:8809200-8826600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:8809200-8829200	Weak transcription	Fetal Kidney	kidney
8	chr11:8811800-8827000	Weak transcription	HMEC	breast
9	chr11:8811800-8828600	Weak transcription	Hela-S3	cervix
10	chr11:8811800-8828800	Weak transcription	Aorta	Aorta
11	chr11:8811800-8830400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:8811800-8830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:8814200-8828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:8814800-8825400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:8815000-8827800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:8815200-8826800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:8815600-8822600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:8815600-8825200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:8815800-8827800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:8816400-8825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:8816400-8831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:8816600-8826600	Weak transcription	Brain Anterior Caudate	brain
23	chr11:8816600-8827400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:8816600-8828400	Weak transcription	NHDF-Ad	bronchial
25	chr11:8816600-8828800	Weak transcription	Brain Substantia Nigra	brain
26	chr11:8816600-8830000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:8816600-8830600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:8816800-8825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:8816800-8828600	Weak transcription	Small Intestine	intestine
30	chr11:8817000-8828600	Weak transcription	Fetal Intestine Large	intestine
31	chr11:8817200-8825600	Weak transcription	Spleen	Spleen
32	chr11:8817200-8828600	Weak transcription	Fetal Intestine Small	intestine
33	chr11:8817400-8828200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:8817600-8825000	Weak transcription	NHLF	lung
35	chr11:8819000-8825600	Weak transcription	Adipose Nuclei	Adipose
36	chr11:8819200-8826600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:8819400-8825200	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:8819800-8828600	Weak transcription	Osteobl	bone
39	chr11:8819800-8829800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:8820000-8822600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:8820000-8823200	Enhancers	Pancreas	Pancrea
42	chr11:8820000-8826200	Strong transcription	HSMMtube	muscle
43	chr11:8820000-8828200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:8820200-8823400	Enhancers	Ovary	ovary
45	chr11:8820200-8823800	Weak transcription	NH-A	brain
46	chr11:8820400-8824200	Enhancers	Left Ventricle	heart
47	chr11:8820600-8823000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:8820600-8823000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:8820600-8823000	Enhancers	Right Atrium	heart
50	chr11:8820600-8823000	Genic enhancers	Stomach Smooth Muscle	stomach

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