Variant report

Variant	rs7931249
Chromosome Location	chr11:85986047-85986048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85985758-85986107	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:85985473-85986061	A549	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85744986..85747847-chr11:85984634..85986736,2	K562	blood:
2	chr11:85977646..85979205-chr11:85985350..85987005,2	K562	blood:
3	chr11:85955876..85958194-chr11:85984411..85986234,2	K562	blood:
4	chr11:85569234..85571636-chr11:85985144..85986966,2	K562	blood:
5	chr11:85984064..85986424-chr11:85987408..85989303,2	K562	blood:
6	chr11:85954796..85956818-chr11:85983486..85986654,3	MCF-7	breast:
7	chr11:85652016..85653035-chr11:85985052..85986168,4	MCF-7	breast:
8	chr11:85954518..85956806-chr11:85983872..85987966,3	MCF-7	breast:
9	chr11:85974215..85977214-chr11:85984888..85986859,2	MCF-7	breast:

No data

Variant related genes	Relation type
EED	TF binding region
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11234604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820048	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs11820262	1.00[ASN][1000 genomes]
rs11820306	1.00[ASN][1000 genomes]
rs11822824	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11823516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823646	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827831	0.85[EUR][1000 genomes]
rs2167611	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3758879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs57381996	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58014336	0.85[EUR][1000 genomes]
rs58563351	0.85[EUR][1000 genomes]
rs60116315	0.85[EUR][1000 genomes]
rs7106523	1.00[JPT][hapmap]
rs7108053	0.85[EUR][1000 genomes]
rs7115858	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs7116227	1.00[ASN][1000 genomes]
rs7118858	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7129295	1.00[ASN][1000 genomes]
rs7924368	0.89[JPT][hapmap]
rs7928648	0.85[EUR][1000 genomes]
rs7934320	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7936284	0.85[EUR][1000 genomes]
rs7951357	0.83[CHD][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap]
rs7951433	0.83[CHD][hapmap]
rs7951478	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898055	chr11:85968623-86000757	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957200-85995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
3	chr11:85957800-85997200	Weak transcription	Colonic Mucosa	Colon
4	chr11:85957800-85999800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:85958400-85997200	Weak transcription	Brain Germinal Matrix	brain
6	chr11:85959200-85988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:85959200-85988600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:85959200-85997600	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:85959400-85995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:85960800-85988000	Weak transcription	Fetal Heart	heart
11	chr11:85961000-85996000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:85961000-85997000	Weak transcription	Stomach Mucosa	stomach
13	chr11:85961600-85998000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:85961800-85988000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:85964000-85995000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:85964400-85987600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:85966000-85992000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:85966200-85991600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:85967000-85991600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:85968800-85988800	Weak transcription	HSMMtube	muscle
21	chr11:85969200-85987400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:85969200-85988200	Weak transcription	NH-A	brain
23	chr11:85969200-85995200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:85969800-85988400	Weak transcription	Fetal Brain Male	brain
25	chr11:85973000-85989200	Weak transcription	NHLF	lung
26	chr11:85973000-85995000	Weak transcription	Lung	lung
27	chr11:85973000-85995000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:85973000-85995600	Weak transcription	Small Intestine	intestine
29	chr11:85973200-85987400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:85973400-85995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:85973800-85992800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:85973800-85995000	Weak transcription	Fetal Brain Female	brain
33	chr11:85974200-85995200	Weak transcription	Esophagus	oesophagus
34	chr11:85974400-85987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:85974800-85988600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:85974800-85995000	Weak transcription	Right Ventricle	heart
37	chr11:85974800-85995000	Weak transcription	Thymus	Thymus
38	chr11:85974800-85995200	Weak transcription	Aorta	Aorta
39	chr11:85974800-86000000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:85975000-85988000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:85975000-85988400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:85975000-86002600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:85975400-85988400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:85975400-85995000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:85975400-85995000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:85976000-85987400	Weak transcription	Osteobl	bone
47	chr11:85976200-85989200	Weak transcription	NHEK	skin
48	chr11:85976400-85986400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:85976400-85987400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:85976400-85988000	Weak transcription	Brain Anterior Caudate	brain

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