Variant report

Variant	rs11680357
Chromosome Location	chr2:47500953-47500954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47406999..47409780-chr2:47499066..47501901,2	MCF-7	breast:
2	chr2:47394184..47396929-chr2:47499010..47501713,3	MCF-7	breast:
3	chr2:47394132..47407926-chr2:47492481..47507054,74	K562	blood:
4	chr2:47416956..47422470-chr2:47490735..47503252,22	MCF-7	breast:
5	chr2:47397474..47405591-chr2:47490090..47505751,58	MCF-7	breast:
6	chr2:47412361..47428396-chr2:47486545..47501626,43	MCF-7	breast:
7	chr2:47396241..47406824-chr2:47488149..47503058,74	K562	blood:
8	chr2:47422552..47429870-chr2:47496148..47502457,12	MCF-7	breast:
9	chr2:47493422..47496136-chr2:47498839..47501811,3	MCF-7	breast:
10	chr2:47499816..47503436-chr2:47513629..47516577,3	MCF-7	breast:
11	chr2:47463258..47464786-chr2:47499792..47501339,2	MCF-7	breast:
12	chr2:47496586..47498213-chr2:47499758..47501672,2	MCF-7	breast:
13	chr2:47500714..47503481-chr2:47536098..47539031,2	K562	blood:
14	chr2:47500386..47503208-chr2:47514636..47517593,2	K562	blood:
15	chr2:47397785..47406895-chr2:47495364..47504312,55	MCF-7	breast:
16	chr2:47499653..47503286-chr2:47546650..47549919,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10184526	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13008809	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1979774	0.90[EUR][1000 genomes]
rs6544975	0.88[ASN][1000 genomes]
rs7564801	0.81[ASN][1000 genomes]
rs904161	0.90[EUR][1000 genomes]
rs9309144	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47496000-47502200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:47497000-47501800	Weak transcription	HSMMtube	muscle
3	chr2:47499000-47502000	Enhancers	Spleen	Spleen
4	chr2:47499200-47502200	Enhancers	Fetal Heart	heart
5	chr2:47499200-47502200	Enhancers	NHLF	lung
6	chr2:47499600-47514400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:47499800-47501800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:47499800-47502600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:47500000-47501000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:47500000-47501000	Enhancers	Left Ventricle	heart
11	chr2:47500000-47501200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:47500000-47501200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:47500000-47501200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:47500000-47501400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:47500000-47501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:47500000-47502000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:47500000-47502200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:47500000-47502200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:47500000-47502200	Enhancers	Brain Angular Gyrus	brain
20	chr2:47500000-47502200	Enhancers	Colon Smooth Muscle	Colon
21	chr2:47500000-47502200	Enhancers	Fetal Muscle Leg	muscle
22	chr2:47500000-47502200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:47500000-47502400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:47500000-47502600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:47500000-47502600	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:47500000-47502800	Enhancers	Adipose Nuclei	Adipose
27	chr2:47500000-47502800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:47500000-47504000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:47500000-47511800	Weak transcription	Thymus	Thymus
30	chr2:47500200-47501000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:47500200-47501000	Weak transcription	Psoas Muscle	Psoas
32	chr2:47500200-47501000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:47500200-47501200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:47500200-47501200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:47500200-47501400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:47500200-47501400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:47500200-47501400	Enhancers	Stomach Mucosa	stomach
38	chr2:47500200-47501400	Weak transcription	HSMM	muscle
39	chr2:47500200-47501600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:47500200-47502000	Enhancers	A549	lung
41	chr2:47500200-47502600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:47500200-47502600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:47500200-47502600	Enhancers	NHDF-Ad	bronchial
44	chr2:47500200-47502800	Enhancers	Brain Hippocampus Middle	brain
45	chr2:47500200-47503200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:47500200-47504000	Weak transcription	NHEK	skin
47	chr2:47500400-47501000	Enhancers	Colonic Mucosa	Colon
48	chr2:47500400-47501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:47500400-47501400	Weak transcription	Osteobl	bone
50	chr2:47500400-47501600	Weak transcription	Right Atrium	heart

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