Variant report

Variant	rs12293793
Chromosome Location	chr11:17220682-17220683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17217666..17220812-chr11:17226929..17230937,4	MCF-7	breast:
2	chr11:17219025..17224856-chr11:17226491..17230586,7	K562	blood:
3	chr11:17219657..17222311-chr11:17222613..17225144,3	K562	blood:
4	chr11:17219025..17222560-chr11:17227070..17230586,4	K562	blood:
5	chr11:17099103..17100814-chr11:17219601..17221116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10466383	1.00[YRI][hapmap]
rs10466420	1.00[YRI][hapmap]
rs11024214	1.00[YRI][hapmap]
rs11024237	1.00[YRI][hapmap]
rs12272752	1.00[YRI][hapmap]
rs12277622	1.00[YRI][hapmap]
rs12283197	1.00[YRI][hapmap]
rs12288105	1.00[YRI][hapmap]
rs12291395	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12292310	1.00[YRI][hapmap]
rs12292965	1.00[YRI][hapmap]
rs7924495	1.00[YRI][hapmap]

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	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
2	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
3	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
4	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
5	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:17194200-17228000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:17197600-17228000	Weak transcription	Brain Angular Gyrus	brain
8	chr11:17203000-17228800	Weak transcription	Spleen	Spleen
9	chr11:17207400-17228200	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:17208800-17227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:17209400-17228000	Weak transcription	K562	blood
12	chr11:17210400-17227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:17210600-17228200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:17210600-17228200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:17210800-17222400	Weak transcription	Psoas Muscle	Psoas
16	chr11:17210800-17228000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:17212600-17228600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:17213000-17227400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:17213200-17228200	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:17213400-17221200	Weak transcription	GM12878-XiMat	blood
21	chr11:17214400-17228000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:17214800-17222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:17215200-17228000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:17215200-17228000	Weak transcription	Fetal Kidney	kidney
25	chr11:17216000-17221400	Weak transcription	Primary B cells from cord blood	blood
26	chr11:17216000-17223200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:17216000-17223400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:17216000-17223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:17216000-17223800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:17216000-17223800	Weak transcription	Gastric	stomach
31	chr11:17216000-17223800	Weak transcription	Right Ventricle	heart
32	chr11:17216000-17224000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:17216000-17224200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:17216000-17224200	Weak transcription	Adipose Nuclei	Adipose
35	chr11:17216000-17224200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:17216000-17226000	Weak transcription	Dnd41	blood
37	chr11:17216000-17226200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:17216000-17227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:17216000-17227400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr11:17216000-17227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:17216000-17227600	Weak transcription	Liver	Liver
42	chr11:17216000-17228000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:17216000-17228000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:17216000-17228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:17216000-17228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:17216000-17228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:17216000-17228000	Weak transcription	Brain Anterior Caudate	brain
48	chr11:17216000-17228000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:17216000-17228000	Weak transcription	Fetal Brain Female	brain
50	chr11:17216000-17228000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links