Variant report

Variant	rs576778701
Chromosome Location	chr12:121017895-121017896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121015932-121018301	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:121016717-121019832	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr12:121017856-121018095	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:121017885-121018169	K562	blood:	n/a	n/a
5	POLR2A	chr12:121016295-121019718	A549	lung:	n/a	n/a
6	POLR2A	chr12:121016296-121018081	GM12891	blood:	n/a	n/a
7	POLR2A	chr12:121016251-121018410	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:121017890-121018149	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:121015719-121018479	GM12891	blood:	n/a	n/a
10	POLR2A	chr12:121015744-121018025	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:121012978-121019545	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:120971743..120974059-chr12:121017467..121020168,3	MCF-7	breast:
2	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
3	chr12:121002647..121005056-chr12:121017144..121019429,2	MCF-7	breast:

No data

Variant related genes	Relation type
POP5	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000022840	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv973944	chr12:121017088-121027122	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	14 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	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
4	chr12:120984000-121018200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:120984400-121018000	Strong transcription	Brain Germinal Matrix	brain
6	chr12:120985600-121018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:120988200-121018200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:120990000-121018000	Strong transcription	Spleen	Spleen
9	chr12:120990800-121018200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:120991400-121018200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:120993000-121018000	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:120997000-121018000	Strong transcription	Lung	lung
13	chr12:120998200-121018000	Strong transcription	Fetal Brain Female	brain
14	chr12:120999800-121018000	Strong transcription	Fetal Intestine Small	intestine
15	chr12:121001800-121018200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:121008400-121018200	Strong transcription	HSMM	muscle
17	chr12:121012000-121018000	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:121012000-121018200	Strong transcription	Left Ventricle	heart
19	chr12:121012600-121018000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:121012800-121018200	Strong transcription	Brain Substantia Nigra	brain
21	chr12:121015000-121018000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:121015000-121018200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:121015400-121018200	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr12:121015400-121018200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:121015600-121018000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:121015800-121018000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:121015800-121018200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:121016600-121018200	Genic enhancers	K562	blood
29	chr12:121016800-121018000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:121016800-121018000	Genic enhancers	Dnd41	blood
31	chr12:121017200-121018000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:121017200-121018000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:121017200-121018200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:121017200-121018400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:121017400-121018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:121017400-121018000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:121017400-121018000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:121017400-121018000	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:121017400-121018400	Weak transcription	Psoas Muscle	Psoas
40	chr12:121017400-121018400	Weak transcription	NHLF	lung
41	chr12:121017400-121018600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:121017400-121018600	Weak transcription	Ovary	ovary
43	chr12:121017600-121018000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:121017600-121018000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:121017600-121018000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:121017600-121018000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:121017600-121018000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:121017600-121018000	Weak transcription	Primary T cells from cord blood	blood
49	chr12:121017600-121018000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:121017600-121018000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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