Variant report

Variant	rs11830117
Chromosome Location	chr12:49233160-49233161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49211960..49214574-chr12:49231587..49235207,3	MCF-7	breast:
2	chr12:49227845..49229693-chr12:49232261..49234174,2	K562	blood:
3	chr12:49230688..49233544-chr12:49244460..49246461,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167535	Chromatin interaction
ENSG00000174243	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11534	1.00[EUR][1000 genomes]
rs11551273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830164	1.00[EUR][1000 genomes]
rs11830884	1.00[EUR][1000 genomes]
rs11831374	1.00[EUR][1000 genomes]
rs11832320	1.00[EUR][1000 genomes]
rs11833394	1.00[EUR][1000 genomes]
rs11833669	1.00[EUR][1000 genomes]
rs11835422	1.00[EUR][1000 genomes]
rs11837122	1.00[EUR][1000 genomes]
rs11837337	1.00[EUR][1000 genomes]
rs11837993	1.00[EUR][1000 genomes]
rs11838121	1.00[EUR][1000 genomes]
rs11838289	1.00[EUR][1000 genomes]
rs11838360	1.00[EUR][1000 genomes]
rs17123267	1.00[EUR][1000 genomes]
rs17123398	1.00[EUR][1000 genomes]
rs34139009	1.00[EUR][1000 genomes]
rs36119652	1.00[EUR][1000 genomes]
rs55956587	1.00[EUR][1000 genomes]
rs56179964	1.00[EUR][1000 genomes]
rs57337154	1.00[EUR][1000 genomes]
rs57454425	1.00[EUR][1000 genomes]
rs57658152	1.00[EUR][1000 genomes]
rs59304927	1.00[EUR][1000 genomes]
rs59708884	1.00[EUR][1000 genomes]
rs60351852	1.00[EUR][1000 genomes]
rs71439468	1.00[EUR][1000 genomes]
rs7303057	1.00[EUR][1000 genomes]
rs7312311	1.00[EUR][1000 genomes]
rs7315319	1.00[EUR][1000 genomes]
rs74088131	1.00[EUR][1000 genomes]
rs74088137	1.00[EUR][1000 genomes]
rs74088163	1.00[EUR][1000 genomes]
rs74088167	1.00[EUR][1000 genomes]
rs74088185	1.00[EUR][1000 genomes]
rs74088186	1.00[EUR][1000 genomes]
rs74089357	1.00[EUR][1000 genomes]
rs74089364	1.00[EUR][1000 genomes]
rs7956989	1.00[EUR][1000 genomes]
rs7959705	1.00[EUR][1000 genomes]
rs7970421	1.00[EUR][1000 genomes]
rs7973146	1.00[EUR][1000 genomes]
rs7973248	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49214600-49234800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:49215200-49243800	Strong transcription	Fetal Stomach	stomach
3	chr12:49215400-49235400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:49215600-49240000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:49215800-49235000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:49216200-49235400	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:49216200-49240200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:49216800-49234200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:49216800-49235400	Strong transcription	Fetal Intestine Large	intestine
10	chr12:49216800-49238600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:49216800-49240000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:49216800-49240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:49217000-49234200	Strong transcription	Ovary	ovary
15	chr12:49217000-49234400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:49217000-49234400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:49217000-49234800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr12:49217000-49235200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:49217000-49243800	Strong transcription	Fetal Intestine Small	intestine
20	chr12:49217200-49234400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr12:49217200-49235000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:49217200-49235400	Strong transcription	Adipose Nuclei	Adipose
23	chr12:49217200-49235600	Strong transcription	Placenta	Placenta
24	chr12:49217400-49235000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:49217400-49235200	Strong transcription	Brain Germinal Matrix	brain
26	chr12:49217400-49235200	Strong transcription	Thymus	Thymus
27	chr12:49217400-49235400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:49217400-49241000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:49217600-49234800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:49217800-49235000	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr12:49218000-49234400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:49218000-49235000	Strong transcription	Dnd41	blood
33	chr12:49218200-49241200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:49218400-49235400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:49219000-49234200	Strong transcription	Primary T cells from cord blood	blood
36	chr12:49219000-49234800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:49219800-49234200	Strong transcription	Gastric	stomach
38	chr12:49220000-49234600	Strong transcription	HUVEC	blood vessel
39	chr12:49220000-49235000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr12:49220000-49235400	Strong transcription	Fetal Thymus	thymus
41	chr12:49220000-49239800	Strong transcription	Spleen	Spleen
42	chr12:49220000-49240000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:49220000-49241200	Strong transcription	Lung	lung
44	chr12:49220200-49235000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:49220200-49235600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:49220400-49234000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:49220400-49235400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:49220400-49235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:49220800-49234800	Strong transcription	Brain Anterior Caudate	brain
50	chr12:49220800-49235000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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