Variant report

Variant	rs13018339
Chromosome Location	chr2:11640200-11640201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11639160..11641163-chr2:11820706..11822536,2	MCF-7	breast:
2	chr12:131506010..131507766-chr2:11639592..11642275,2	MCF-7	breast:
3	chr2:11624474..11626052-chr2:11639612..11642018,2	K562	blood:
4	chr2:11483004..11485278-chr2:11638232..11641196,2	MCF-7	breast:
5	chr2:11638999..11641397-chr2:11660488..11662917,2	K562	blood:

Variant related genes	Relation type
ENSG00000228496	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13428964	0.82[EUR][1000 genomes]
rs6722279	0.90[EUR][1000 genomes]
rs6732810	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11636400-11646400	Weak transcription	Right Atrium	heart
2	chr2:11636600-11641200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:11637000-11640800	Enhancers	Liver	Liver
4	chr2:11637400-11640200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:11638200-11640200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:11638800-11641400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:11638800-11646200	Weak transcription	Psoas Muscle	Psoas
8	chr2:11639000-11640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:11639400-11640800	Weak transcription	A549	lung
10	chr2:11639600-11640200	Enhancers	Brain Substantia Nigra	brain
11	chr2:11639600-11640600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:11639600-11640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:11639600-11641000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:11639600-11641000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:11639600-11641000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:11639600-11641000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:11639600-11641200	Weak transcription	Colonic Mucosa	Colon
18	chr2:11639600-11643000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:11639600-11643400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:11639600-11645400	Weak transcription	Pancreas	Pancrea
21	chr2:11639600-11646000	Weak transcription	Hela-S3	cervix
22	chr2:11639600-11646400	Weak transcription	Right Ventricle	heart
23	chr2:11639600-11647600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:11639600-11648200	Weak transcription	Stomach Mucosa	stomach
25	chr2:11639600-11655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:11639800-11640200	Weak transcription	Ovary	ovary
27	chr2:11639800-11640200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:11639800-11640600	Enhancers	GM12878-XiMat	blood
29	chr2:11639800-11640800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:11639800-11640800	Weak transcription	Adipose Nuclei	Adipose
31	chr2:11639800-11640800	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:11639800-11641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:11639800-11646200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:11640000-11641000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:11640000-11641000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:11640000-11641000	Enhancers	HepG2	liver
37	chr2:11640000-11643000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:11640000-11643000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:11640000-11643000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:11640000-11643200	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:11640000-11646200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:11640000-11648000	Weak transcription	Fetal Heart	heart
43	chr2:11640200-11640600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:11640200-11640600	Weak transcription	Brain Substantia Nigra	brain
45	chr2:11640200-11640600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:11640200-11640800	Enhancers	Ovary	ovary

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