Variant report

Variant	rs73496868
Chromosome Location	chr11:77168621-77168622
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77168519..77171597-chr11:77180665..77182753,3	MCF-7	breast:
2	chr11:77167249..77169051-chr11:77170790..77173301,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56731074	0.96[AFR][1000 genomes]
rs57692537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60843504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102973	0.83[AFR][1000 genomes]
rs7110378	0.83[AFR][1000 genomes]
rs73494597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496889	0.87[AMR][1000 genomes]
rs73501406	0.83[AFR][1000 genomes]
rs73501407	0.83[AFR][1000 genomes]
rs73501414	0.83[AFR][1000 genomes]
rs73501423	0.83[AFR][1000 genomes]
rs73501430	0.83[AFR][1000 genomes]
rs73501440	0.83[AFR][1000 genomes]
rs73501471	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77155400-77181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:77158400-77169800	Weak transcription	Fetal Intestine Large	intestine
3	chr11:77160200-77169400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:77160600-77178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:77161000-77170200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:77161200-77179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:77163000-77173400	Weak transcription	Placenta	Placenta
8	chr11:77164000-77169800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:77165000-77172200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:77165200-77170800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:77165800-77171200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:77166200-77172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:77166800-77169000	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:77166800-77169200	Flanking Active TSS	GM12878-XiMat	blood
15	chr11:77167000-77169000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:77167200-77168800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:77167600-77169000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:77167800-77168800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:77167800-77168800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:77167800-77182000	Weak transcription	Fetal Kidney	kidney
21	chr11:77168000-77168800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:77168000-77169200	Enhancers	Duodenum Mucosa	Duodenum
23	chr11:77168000-77170400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:77168200-77168800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:77168200-77168800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:77168200-77168800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:77168200-77168800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:77168200-77168800	Enhancers	HSMM	muscle
29	chr11:77168200-77168800	Enhancers	NH-A	brain
30	chr11:77168200-77169000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:77168200-77169000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:77168200-77169000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:77168200-77169000	Enhancers	Brain Anterior Caudate	brain
34	chr11:77168200-77169200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:77168200-77170200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:77168400-77168800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:77168400-77168800	Flanking Active TSS	Fetal Brain Female	brain
38	chr11:77168400-77168800	Enhancers	Fetal Muscle Leg	muscle
39	chr11:77168400-77168800	Enhancers	Gastric	stomach
40	chr11:77168400-77168800	Enhancers	Psoas Muscle	Psoas
41	chr11:77168400-77168800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:77168400-77168800	Enhancers	Small Intestine	intestine
43	chr11:77168400-77169000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr11:77168400-77169000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:77168400-77169000	Enhancers	Brain Angular Gyrus	brain
46	chr11:77168400-77169000	Enhancers	Brain Germinal Matrix	brain
47	chr11:77168400-77169200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:77168400-77169200	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:77168400-77170600	Enhancers	Brain Hippocampus Middle	brain
50	chr11:77168400-77172200	Enhancers	Fetal Intestine Small	intestine

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