Variant report

Variant	rs555190975
Chromosome Location	chr12:50455199-50455200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50449783..50453110-chr12:50454636..50460246,5	MCF-7	breast:
2	chr12:50454474..50457351-chr12:50461340..50464136,2	K562	blood:
3	chr12:50455053..50457708-chr12:51157070..51158737,2	MCF-7	breast:
4	chr12:50452539..50455408-chr12:50466138..50467868,2	MCF-7	breast:
5	chr12:50452088..50458692-chr12:50460164..50465883,8	K562	blood:
6	chr12:50453939..50455878-chr12:50478011..50480202,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066117	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv437753	chr12:50454357-50462138	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50451400-50459800	Weak transcription	Fetal Heart	heart
2	chr12:50451400-50464000	Weak transcription	Fetal Lung	lung
3	chr12:50451800-50464200	Weak transcription	Gastric	stomach
4	chr12:50452000-50456200	Weak transcription	HMEC	breast
5	chr12:50452000-50464200	Weak transcription	A549	lung
6	chr12:50452200-50456400	Weak transcription	HSMM	muscle
7	chr12:50452200-50464000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:50452400-50455200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:50452400-50460200	Weak transcription	Hela-S3	cervix
10	chr12:50452600-50456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:50452600-50458200	Enhancers	Thymus	Thymus
12	chr12:50452600-50459200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:50452600-50464000	Weak transcription	Esophagus	oesophagus
14	chr12:50452800-50457200	Genic enhancers	Fetal Brain Female	brain
15	chr12:50452800-50458600	Enhancers	Fetal Thymus	thymus
16	chr12:50453200-50455200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:50453200-50458400	Enhancers	Brain Substantia Nigra	brain
18	chr12:50453400-50455200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:50453400-50455600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:50453400-50455600	Genic enhancers	Brain Hippocampus Middle	brain
21	chr12:50453600-50455600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:50453600-50456400	Bivalent Enhancer	Placenta	Placenta
23	chr12:50453800-50455200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:50453800-50455600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:50453800-50455800	Genic enhancers	Brain Angular Gyrus	brain
26	chr12:50453800-50456600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:50453800-50460400	Strong transcription	Fetal Stomach	stomach
28	chr12:50454000-50455600	Strong transcription	Brain Germinal Matrix	brain
29	chr12:50454000-50456000	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:50454000-50457200	Enhancers	Brain Anterior Caudate	brain
31	chr12:50454200-50455600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:50454200-50456000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:50454200-50456000	Weak transcription	NH-A	brain
34	chr12:50454200-50456200	Weak transcription	HSMMtube	muscle
35	chr12:50454200-50457200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:50454400-50456200	Weak transcription	Fetal Brain Male	brain
37	chr12:50454400-50459600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:50454400-50460000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr12:50454600-50455800	Enhancers	Adipose Nuclei	Adipose
40	chr12:50454600-50456200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:50454600-50464200	Weak transcription	Fetal Intestine Small	intestine
42	chr12:50454800-50455400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:50454800-50455600	Enhancers	Liver	Liver
44	chr12:50454800-50458800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:50454800-50464000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:50455000-50455200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
47	chr12:50455000-50455200	Genic enhancers	Primary T cells from cord blood	blood
48	chr12:50455000-50455200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr12:50455000-50455200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
50	chr12:50455000-50455200	Enhancers	Spleen	Spleen

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