Variant report

Variant	rs74091642
Chromosome Location	chr12:57058762-57058763
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57055330..57057220-chr12:57057882..57060273,3	MCF-7	breast:
2	chr12:57058681..57061712-chr12:57080102..57082198,3	MCF-7	breast:
3	chr12:57038309..57041769-chr12:57058275..57062182,3	MCF-7	breast:
4	chr12:57054749..57057054-chr12:57058615..57061624,4	K562	blood:
5	chr12:57057213..57059429-chr12:57063749..57066712,2	MCF-7	breast:
6	chr12:57057875..57064396-chr12:57067862..57074098,12	K562	blood:
7	chr12:57057109..57062087-chr12:57076163..57079993,5	MCF-7	breast:
8	chr12:57036419..57038749-chr12:57058085..57061002,2	K562	blood:
9	chr12:57058675..57061350-chr12:57064003..57066364,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110955	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000241217	Chromatin interaction
ENSG00000207031	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11830013	1.00[AMR][1000 genomes]
rs11830415	1.00[AMR][1000 genomes]
rs11830865	1.00[AMR][1000 genomes]
rs11832786	1.00[AMR][1000 genomes]
rs11835916	1.00[AMR][1000 genomes]
rs58051650	1.00[AMR][1000 genomes]
rs58783710	1.00[AMR][1000 genomes]
rs59501151	1.00[AMR][1000 genomes]
rs74091604	1.00[AMR][1000 genomes]
rs74091895	1.00[AMR][1000 genomes]
rs74093907	1.00[AMR][1000 genomes]
rs74095031	1.00[AMR][1000 genomes]
rs74095032	1.00[AMR][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers 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 miRNA target site	181 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	chr12:57039800-57059200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:57040400-57059200	Weak transcription	Aorta	Aorta
3	chr12:57040400-57059400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:57040400-57069400	Weak transcription	Right Atrium	heart
5	chr12:57040600-57058800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:57046200-57059400	Weak transcription	Lung	lung
7	chr12:57052000-57059200	Weak transcription	Spleen	Spleen
8	chr12:57052400-57059200	Weak transcription	NHLF	lung
9	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:57052600-57059800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:57053000-57060200	Weak transcription	Right Ventricle	heart
12	chr12:57054000-57059400	Weak transcription	Ovary	ovary
13	chr12:57054200-57064200	Weak transcription	Small Intestine	intestine
14	chr12:57054200-57069600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:57054400-57059400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:57054600-57067000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr12:57054800-57059200	Weak transcription	Pancreas	Pancrea
18	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
19	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:57055000-57060200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:57055200-57064200	Weak transcription	Fetal Heart	heart
22	chr12:57055200-57064400	Strong transcription	Fetal Intestine Large	intestine
23	chr12:57055400-57060000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:57055400-57061400	Strong transcription	A549	lung
25	chr12:57055400-57064000	Weak transcription	Stomach Mucosa	stomach
26	chr12:57055400-57066400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:57055400-57066800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:57055600-57061600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:57055600-57065400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr12:57055600-57066000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:57055600-57066600	Strong transcription	Adipose Nuclei	Adipose
32	chr12:57055600-57067200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:57055600-57068200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:57055800-57059200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:57055800-57061400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:57055800-57064000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:57055800-57064400	Strong transcription	Liver	Liver
39	chr12:57055800-57065800	Strong transcription	Primary T cells from cord blood	blood
40	chr12:57055800-57066400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:57055800-57066600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:57055800-57067000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr12:57056000-57058800	Weak transcription	Fetal Lung	lung
44	chr12:57056000-57059200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:57056000-57059200	Weak transcription	Gastric	stomach
46	chr12:57056000-57065200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:57056000-57068000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:57056000-57069200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:57056200-57059200	Weak transcription	Esophagus	oesophagus
50	chr12:57056200-57064400	Strong transcription	Left Ventricle	heart

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