Variant report

Variant	rs12281046
Chromosome Location	chr11:17215295-17215296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17214868..17217658-chr11:17229098..17231108,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10437606	1.00[AFR][1000 genomes]
rs11024191	1.00[AFR][1000 genomes]
rs11024200	1.00[AFR][1000 genomes]
rs11024205	0.91[AFR][1000 genomes]
rs11024209	0.91[AFR][1000 genomes]
rs11024210	0.91[AFR][1000 genomes]
rs11024214	0.84[AFR][1000 genomes]
rs11024224	0.91[AFR][1000 genomes]
rs11024225	0.91[AFR][1000 genomes]
rs12270107	1.00[AFR][1000 genomes]
rs12270787	1.00[AFR][1000 genomes]
rs12271185	0.91[AFR][1000 genomes]
rs12271462	0.91[AFR][1000 genomes]
rs12273822	1.00[AFR][1000 genomes]
rs12274808	1.00[AFR][1000 genomes]
rs12275868	0.91[AFR][1000 genomes]
rs12277497	1.00[AFR][1000 genomes]
rs12277622	1.00[AFR][1000 genomes]
rs12280196	0.91[AFR][1000 genomes]
rs12282134	0.91[AFR][1000 genomes]
rs12283197	1.00[AFR][1000 genomes]
rs12284302	0.91[AFR][1000 genomes]
rs12284418	0.91[AFR][1000 genomes]
rs12284697	1.00[AFR][1000 genomes]
rs12286496	1.00[AFR][1000 genomes]
rs12287981	1.00[AFR][1000 genomes]
rs12288071	1.00[AFR][1000 genomes]
rs12288105	1.00[AFR][1000 genomes]
rs12289626	0.91[AFR][1000 genomes]
rs12289628	0.91[AFR][1000 genomes]
rs12290259	1.00[AFR][1000 genomes]
rs12290804	1.00[AFR][1000 genomes]
rs12291427	0.83[AFR][1000 genomes]
rs12291561	1.00[AFR][1000 genomes]
rs12292310	0.83[AFR][1000 genomes]
rs12293863	0.91[AFR][1000 genomes]
rs12293938	0.91[AFR][1000 genomes]
rs12294565	0.85[AFR][1000 genomes]
rs12294645	0.83[AFR][1000 genomes]
rs12295187	0.91[AFR][1000 genomes]
rs12295410	0.91[AFR][1000 genomes]
rs61761999	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv982988	chr11:17213952-17215900	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
2	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
4	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
5	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
6	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
7	chr11:17191000-17220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:17192400-17217800	Weak transcription	Stomach Mucosa	stomach
10	chr11:17194000-17215400	Weak transcription	A549	lung
11	chr11:17194200-17228000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:17197000-17215600	Weak transcription	Brain Germinal Matrix	brain
13	chr11:17197600-17228000	Weak transcription	Brain Angular Gyrus	brain
14	chr11:17199600-17215400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:17203000-17228800	Weak transcription	Spleen	Spleen
16	chr11:17205400-17220200	Weak transcription	Aorta	Aorta
17	chr11:17207400-17228200	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:17208600-17215600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:17208800-17227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:17209400-17228000	Weak transcription	K562	blood
21	chr11:17209800-17217400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:17210000-17220200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:17210200-17220400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:17210400-17227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:17210600-17228200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:17210600-17228200	Weak transcription	Brain Substantia Nigra	brain
27	chr11:17210800-17222400	Weak transcription	Psoas Muscle	Psoas
28	chr11:17210800-17228000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:17211200-17216600	Strong transcription	Fetal Stomach	stomach
30	chr11:17211400-17215400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:17212200-17216000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:17212200-17216000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr11:17212200-17216000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:17212200-17216000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:17212200-17216200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:17212400-17215400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:17212400-17216000	Strong transcription	Liver	Liver
38	chr11:17212400-17216200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:17212400-17216200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:17212400-17216400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:17212400-17216400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:17212600-17216000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:17212600-17216000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:17212600-17216000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr11:17212600-17216000	Strong transcription	Placenta	Placenta
46	chr11:17212600-17216000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr11:17212600-17216000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:17212600-17216200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:17212600-17216200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr11:17212600-17216200	Strong transcription	HUVEC	blood vessel

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