Variant report

Variant	rs17161725
Chromosome Location	chr11:71651525-71651526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71637612..71641494-chr11:71650147..71652866,4	K562	blood:
2	chr11:71650756..71652380-chr11:71654533..71657023,3	K562	blood:
3	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254469	Chromatin interaction
ENSG00000137522	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1062452	0.88[MKK][hapmap];0.82[YRI][hapmap]
rs17161697	0.97[AFR][1000 genomes]
rs17161699	1.00[ASW][hapmap];0.92[LWK][hapmap]
rs17161758	1.00[ASW][hapmap];0.92[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17161976	1.00[ASW][hapmap]
rs3887002	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs5743677	1.00[MEX][hapmap]
rs7102639	0.94[AFR][1000 genomes]
rs7102677	0.97[AFR][1000 genomes]
rs7106509	1.00[AFR][1000 genomes]
rs7114081	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs7122209	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7125718	0.87[AFR][1000 genomes]
rs7128639	1.00[YRI][hapmap]
rs7929479	0.94[AFR][1000 genomes]
rs7931163	0.94[AFR][1000 genomes]
rs7938674	1.00[MEX][hapmap]
rs7949430	1.00[ASW][hapmap];0.83[LWK][hapmap]
rs9666358	0.87[AFR][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71641000-71671000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:71641200-71670800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:71641200-71671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:71641400-71651600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:71641400-71652000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:71641400-71658000	Weak transcription	Lung	lung
7	chr11:71641400-71661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
9	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
11	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:71641600-71654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:71641600-71654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:71641600-71656800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:71641600-71658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:71641600-71659600	Weak transcription	Fetal Kidney	kidney
17	chr11:71641600-71670800	Weak transcription	Spleen	Spleen
18	chr11:71641600-71671400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:71641600-71671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:71641600-71671600	Weak transcription	Brain Germinal Matrix	brain
21	chr11:71641600-71671600	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:71641600-71673400	Weak transcription	NHLF	lung
23	chr11:71641800-71651600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:71641800-71655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:71641800-71671600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:71642400-71671000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:71642400-71671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:71642600-71655600	Weak transcription	HMEC	breast
29	chr11:71642600-71671000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:71642600-71671200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:71642800-71654000	Weak transcription	Brain Angular Gyrus	brain
32	chr11:71642800-71655800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:71642800-71671200	Weak transcription	Dnd41	blood
34	chr11:71642800-71671400	Weak transcription	Fetal Brain Female	brain
35	chr11:71643000-71651600	Weak transcription	Aorta	Aorta
36	chr11:71643400-71655400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:71644200-71655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:71644200-71665600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:71645400-71659000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:71645600-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:71645600-71658400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:71645600-71659600	Weak transcription	Gastric	stomach
43	chr11:71645600-71671200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:71645800-71660200	Weak transcription	Thymus	Thymus
45	chr11:71645800-71660800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:71645800-71671400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:71646000-71656600	Weak transcription	Fetal Intestine Small	intestine
48	chr11:71646000-71658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:71646200-71655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:71646600-71658000	Weak transcription	Fetal Intestine Large	intestine

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