Variant report

Variant	rs3040119
Chromosome Location	chr12:122265385-122265386
allele	-/AC
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122263316..122269840-chr12:122275192..122277563,9	K562	blood:
2	chr12:122257311..122259605-chr12:122263406..122267409,4	MCF-7	breast:
3	chr12:122263478..122265843-chr12:122459238..122462065,2	MCF-7	breast:
4	chr12:122255928..122260265-chr12:122261621..122265841,4	K562	blood:
5	chr12:122260634..122262988-chr12:122263778..122265439,3	K562	blood:
6	chr12:122262591..122265801-chr12:122266206..122268055,3	MCF-7	breast:
7	chr12:122263009..122268091-chr12:122324270..122328338,7	MCF-7	breast:
8	chr12:122259672..122261215-chr12:122262600..122265504,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110801	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv520973	chr12:122265106-122267218	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv54649	chr12:122265386-122265387	Strong transcription Weak transcription	Chromatin interactive region	3 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	chr12:122250800-122270200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:122250800-122270400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122250800-122277200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122251000-122270200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:122251000-122270400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:122251200-122266800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:122251200-122270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:122251200-122277000	Weak transcription	Right Atrium	heart
9	chr12:122251400-122266600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:122251400-122270400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:122251600-122266200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr12:122251600-122268800	Strong transcription	Primary T cells from cord blood	blood
13	chr12:122251600-122270400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr12:122251600-122270400	Strong transcription	NHLF	lung
15	chr12:122251600-122270400	Strong transcription	Osteobl	bone
16	chr12:122251600-122270800	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:122251600-122270800	Strong transcription	Fetal Stomach	stomach
18	chr12:122251800-122266400	Strong transcription	Brain Germinal Matrix	brain
19	chr12:122251800-122270200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:122251800-122270200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:122251800-122270400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:122251800-122270400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:122251800-122270400	Strong transcription	Fetal Brain Female	brain
24	chr12:122251800-122270400	Strong transcription	Fetal Intestine Large	intestine
25	chr12:122251800-122270400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr12:122251800-122270600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:122251800-122270800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:122252000-122266600	Weak transcription	Fetal Heart	heart
29	chr12:122252000-122267200	Strong transcription	Brain Hippocampus Middle	brain
30	chr12:122252000-122267400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:122252000-122270200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:122252000-122270200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:122252000-122270200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:122252000-122270200	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:122252000-122270200	Strong transcription	Dnd41	blood
36	chr12:122252000-122270400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:122252000-122270400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:122252000-122270400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:122252000-122270600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:122252000-122270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:122252000-122270800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:122252000-122270800	Strong transcription	Liver	Liver
43	chr12:122252000-122271400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:122252000-122271400	Strong transcription	Fetal Intestine Small	intestine
45	chr12:122252200-122269800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:122252200-122270800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:122252400-122269400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:122252400-122270400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:122252400-122270800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:122252600-122267200	Strong transcription	Ovary	ovary

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