Variant report

Variant	rs61943523
Chromosome Location	chr12:118586689-118586690
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118573290..118575183-chr12:118586216..118588129,2	MCF-7	breast:
2	chr12:118581884..118587240-chr12:118588010..118590251,5	K562	blood:
3	chr12:118582911..118584770-chr12:118584900..118587466,2	MCF-7	breast:
4	chr12:118585664..118587231-chr12:118640737..118643618,2	K562	blood:

Variant related genes	Relation type
ENSG00000089220	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1051077	1.00[ASN][1000 genomes]
rs16939761	1.00[ASN][1000 genomes]
rs17440315	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440336	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440364	0.80[EUR][1000 genomes]
rs17586342	0.89[EUR][1000 genomes]
rs61943524	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943525	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943528	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943535	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61943537	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61943538	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73220119	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974375	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118575400-118590400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:118575400-118590600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:118575400-118590600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:118575400-118591400	Strong transcription	Fetal Stomach	stomach
5	chr12:118575600-118586800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:118575600-118588200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:118575600-118601600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:118575800-118587800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:118575800-118589200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:118575800-118590400	Strong transcription	Lung	lung
11	chr12:118575800-118590600	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:118575800-118590800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr12:118576000-118586800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:118576000-118587200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:118576000-118591600	Strong transcription	Fetal Intestine Large	intestine
16	chr12:118576000-118591600	Strong transcription	Dnd41	blood
17	chr12:118576000-118601200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:118576000-118619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:118576000-118624000	Weak transcription	Stomach Mucosa	stomach
20	chr12:118576200-118587600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:118576200-118590400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:118576200-118590600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:118576200-118591000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:118576200-118591400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:118576200-118595400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:118576400-118591400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:118576600-118587600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:118576600-118590600	Strong transcription	Adipose Nuclei	Adipose
29	chr12:118576600-118590600	Strong transcription	Brain Germinal Matrix	brain
30	chr12:118576800-118587400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:118577200-118587800	Strong transcription	NHDF-Ad	bronchial
32	chr12:118577400-118601800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:118577600-118586800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:118577600-118587800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:118577600-118590800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:118577600-118599000	Weak transcription	Psoas Muscle	Psoas
37	chr12:118578000-118590800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:118578200-118586800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:118578200-118588000	Strong transcription	Brain Anterior Caudate	brain
40	chr12:118578200-118588400	Weak transcription	K562	blood
41	chr12:118578200-118611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:118578600-118603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:118579600-118588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:118580400-118590600	Strong transcription	Spleen	Spleen
45	chr12:118581000-118588800	Weak transcription	Fetal Kidney	kidney
46	chr12:118581200-118587600	Strong transcription	Pancreas	Pancrea
47	chr12:118581400-118587600	Strong transcription	Brain Hippocampus Middle	brain
48	chr12:118581400-118590400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:118582200-118586800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:118582400-118588400	Strong transcription	Brain Substantia Nigra	brain

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