Variant report

Variant	rs556250408
Chromosome Location	chr12:124064839-124064840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:124064808-124065009	K562	blood:	n/a	n/a
2	CTCF	chr12:124064834-124064951	K562	blood:	n/a	n/a
3	CUX1	chr12:124064811-124065011	K562	blood:	n/a	n/a
4	ZNF384	chr12:124064662-124065097	K562	blood:	n/a	n/a
5	EP300	chr12:124064820-124065035	K562	blood:	n/a	n/a
6	POLR2A	chr12:124064799-124065038	K562	blood:	n/a	n/a
7	RCOR1	chr12:124064796-124065025	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124018351..124020362-chr12:124063140..124065356,2	MCF-7	breast:
2	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
3	chr12:124063601..124065298-chr12:124067381..124068906,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMED2	TF binding region
ENSG00000183955	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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv3498753	chr12:124064319-124065410	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3498764	chr12:124064319-124065410	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124055000-124065000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:124055000-124067400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:124055200-124068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:124055400-124067800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:124056000-124066600	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:124056000-124066600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:124056000-124067000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:124056000-124067800	Weak transcription	Lung	lung
9	chr12:124056200-124065000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:124056200-124066600	Weak transcription	Thymus	Thymus
11	chr12:124056200-124067000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:124056200-124067200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:124056400-124065200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:124056400-124065400	Weak transcription	Osteobl	bone
15	chr12:124056400-124066600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:124056400-124066600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:124056400-124066600	Weak transcription	Brain Anterior Caudate	brain
18	chr12:124056400-124066600	Weak transcription	K562	blood
19	chr12:124056400-124066800	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:124056400-124066800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:124056400-124067000	Weak transcription	NHDF-Ad	bronchial
22	chr12:124056400-124067400	Weak transcription	HSMMtube	muscle
23	chr12:124056800-124066600	Weak transcription	Dnd41	blood
24	chr12:124058800-124066600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:124058800-124067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:124059200-124066800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:124059200-124066800	Weak transcription	Spleen	Spleen
28	chr12:124059200-124067200	Weak transcription	Brain Germinal Matrix	brain
29	chr12:124059400-124066600	Weak transcription	Liver	Liver
30	chr12:124059400-124067000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:124059400-124067200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:124059800-124066600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:124059800-124066800	Weak transcription	Fetal Kidney	kidney
34	chr12:124060000-124066800	Weak transcription	Ovary	ovary
35	chr12:124060000-124067000	Weak transcription	NHLF	lung
36	chr12:124060400-124066000	Weak transcription	Primary B cells from cord blood	blood
37	chr12:124060400-124066600	Weak transcription	HSMM	muscle
38	chr12:124060400-124066800	Weak transcription	Gastric	stomach
39	chr12:124060600-124066800	Weak transcription	GM12878-XiMat	blood
40	chr12:124061000-124066000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:124061000-124066600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:124061000-124066800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:124061000-124066800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:124061000-124067000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:124061200-124066800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:124061200-124067000	Weak transcription	Fetal Lung	lung
47	chr12:124061200-124067200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:124061400-124066600	Weak transcription	Fetal Thymus	thymus
49	chr12:124061400-124066800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:124061400-124066800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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