Variant report

Variant	rs12804718
Chromosome Location	chr11:6671761-6671762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:6632520..6634111-chr11:6671650..6673241,2	MCF-7	breast:
2	chr11:6638642..6641377-chr11:6671039..6674008,2	K562	blood:
3	chr11:6639337..6641377-chr11:6671039..6672968,2	K562	blood:
4	chr11:6631935..6636002-chr11:6669789..6672430,3	K562	blood:
5	chr11:6671564..6673124-chr11:6685521..6687390,2	K562	blood:
6	chr11:6671110..6672639-chr11:6676318..6679002,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255680	Chromatin interaction
ENSG00000166340	Chromatin interaction
ENSG00000166337	Chromatin interaction
ENSG00000166341	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34957911	1.00[AFR][1000 genomes]
rs71472605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv3416860	chr11:6429024-6882015	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv825755	chr11:6613228-6677844	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1043103	chr11:6625861-6679974	Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription 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	21 gene(s)	inside rSNPs	diseases
4	nsv1035138	chr11:6629042-7001786	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1037420	chr11:6637433-6679974	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv553374	chr11:6637504-6685558	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv540945	chr11:6652513-6679974	Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6648800-6673000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:6661800-6671800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:6662000-6675400	Weak transcription	Aorta	Aorta
4	chr11:6663000-6676400	Weak transcription	Gastric	stomach
5	chr11:6668600-6672600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr11:6668800-6672600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr11:6668800-6673600	Genic enhancers	Brain Germinal Matrix	brain
8	chr11:6668800-6675600	Weak transcription	NHDF-Ad	bronchial
9	chr11:6668800-6676000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:6668800-6676200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:6669200-6673800	Weak transcription	Fetal Thymus	thymus
12	chr11:6669200-6674400	Weak transcription	Fetal Kidney	kidney
13	chr11:6669200-6675000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:6669200-6675000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:6669200-6675600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:6669200-6675800	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:6669400-6671800	Weak transcription	Left Ventricle	heart
18	chr11:6669400-6672000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:6669400-6673000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:6669400-6675400	Weak transcription	Brain Angular Gyrus	brain
21	chr11:6669400-6675600	Weak transcription	Brain Substantia Nigra	brain
22	chr11:6669600-6673000	Genic enhancers	Fetal Brain Female	brain
23	chr11:6669600-6674400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:6669600-6675400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:6669600-6675800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:6669800-6675200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:6670000-6672200	Weak transcription	HUVEC	blood vessel
28	chr11:6670000-6673400	Weak transcription	Fetal Lung	lung
29	chr11:6670000-6674400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:6670000-6674400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:6670000-6674600	Weak transcription	Ovary	ovary
32	chr11:6670000-6675600	Weak transcription	Right Ventricle	heart
33	chr11:6670200-6672000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:6670400-6672800	Enhancers	Fetal Brain Male	brain
35	chr11:6670400-6675400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:6670600-6672000	Weak transcription	Primary T cells from cord blood	blood
37	chr11:6670600-6673200	Strong transcription	Fetal Stomach	stomach
38	chr11:6670600-6673400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:6670600-6673600	Weak transcription	Adipose Nuclei	Adipose
40	chr11:6670600-6673600	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:6670600-6674600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:6670800-6674000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:6670800-6674600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:6670800-6675200	Enhancers	Fetal Heart	heart
45	chr11:6671000-6673600	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:6671000-6673600	Weak transcription	Spleen	Spleen
47	chr11:6671000-6675400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:6671000-6675400	Weak transcription	Right Atrium	heart
49	chr11:6671200-6673000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:6671400-6672000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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