Variant report

Variant	rs12291190
Chromosome Location	chr11:120067332-120067333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120064484..120070047-chr11:120078272..120084162,6	MCF-7	breast:
2	chr11:120066886..120069148-chr11:120079541..120081080,2	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2508491	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2508492	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs471776	0.88[ASN][1000 genomes]
rs488615	0.91[ASN][1000 genomes]
rs490819	0.88[ASN][1000 genomes]
rs518863	0.89[ASN][1000 genomes]
rs546441	0.88[ASN][1000 genomes]
rs547897	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs548215	0.83[ASN][1000 genomes]
rs551843	0.88[ASN][1000 genomes]
rs561218	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs571854	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs574563	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs579368	0.88[ASN][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120058000-120068800	Weak transcription	Right Atrium	heart
2	chr11:120058200-120068200	Weak transcription	Spleen	Spleen
3	chr11:120060000-120067400	Weak transcription	Right Ventricle	heart
4	chr11:120062200-120073600	Enhancers	Fetal Intestine Small	intestine
5	chr11:120064200-120070400	Enhancers	Fetal Muscle Leg	muscle
6	chr11:120064400-120070200	Enhancers	Fetal Muscle Trunk	muscle
7	chr11:120064600-120067400	Enhancers	HepG2	liver
8	chr11:120064600-120069200	Weak transcription	Ovary	ovary
9	chr11:120064600-120069400	Weak transcription	Pancreas	Pancrea
10	chr11:120065600-120071800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:120065800-120068200	Enhancers	Colonic Mucosa	Colon
12	chr11:120065800-120068200	Enhancers	Fetal Kidney	kidney
13	chr11:120065800-120068800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr11:120065800-120069400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:120065800-120070400	Enhancers	Fetal Stomach	stomach
16	chr11:120065800-120074600	Enhancers	Fetal Intestine Large	intestine
17	chr11:120066000-120067600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:120066000-120068600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr11:120066000-120069200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:120066000-120069800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:120066200-120067400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:120066200-120068000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:120066400-120067400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:120066400-120068600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:120066400-120068600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr11:120066400-120069200	Enhancers	Placenta	Placenta
27	chr11:120066400-120069600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:120066400-120069800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:120066400-120069800	Enhancers	Fetal Lung	lung
30	chr11:120066400-120070200	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:120066400-120070200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:120066400-120070800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:120066400-120071000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr11:120066600-120067600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr11:120066600-120069800	Enhancers	Brain Hippocampus Middle	brain
36	chr11:120066600-120073200	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:120066800-120068000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr11:120066800-120069800	Enhancers	Brain Anterior Caudate	brain
39	chr11:120066800-120070400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:120066800-120070800	Enhancers	Liver	Liver
41	chr11:120066800-120071200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr11:120066800-120071200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr11:120067000-120067600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:120067000-120069200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:120067200-120067600	Enhancers	Adipose Nuclei	Adipose
46	chr11:120067200-120067600	Enhancers	Colon Smooth Muscle	Colon
47	chr11:120067200-120068000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:120067200-120068200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr11:120067200-120068400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:120067200-120068800	Enhancers	Small Intestine	intestine

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