Variant report

Variant	rs576558998
Chromosome Location	chr12:121017780-121017781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 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	chr12:121016295-121019718	A549	lung:	n/a	n/a
4	POLR2A	chr12:121017592-121017857	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:121016296-121018081	GM12891	blood:	n/a	n/a
6	POLR2A	chr12:121016251-121018410	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:121016810-121017818	GM12891	blood:	n/a	n/a
8	POLR2A	chr12:121015719-121018479	GM12891	blood:	n/a	n/a
9	POLR2A	chr12:121016574-121017827	GM12892	blood:	n/a	n/a
10	POLR2A	chr12:121015744-121018025	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:121016646-121017786	U87	brain:	n/a	n/a
12	POLR2A	chr12:121012978-121019545	K562	blood:	n/a	n/a
13	POLR2A	chr12:121016913-121017838	HL-60	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
ENSG00000022840	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000110917	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	chr12:120983600-121017800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:120983600-121017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:120983600-121017800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:120983800-121017800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:120983800-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:120984000-121017800	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr12:120984000-121017800	Strong transcription	Fetal Intestine Large	intestine
11	chr12:120984000-121017800	Strong transcription	Thymus	Thymus
12	chr12:120984000-121018200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:120984400-121018000	Strong transcription	Brain Germinal Matrix	brain
14	chr12:120985600-121018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:120988200-121017800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr12:120988200-121018200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:120988400-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:120989400-121017800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:120990000-121018000	Strong transcription	Spleen	Spleen
20	chr12:120990200-121017800	Strong transcription	HUVEC	blood vessel
21	chr12:120990800-121017800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:120990800-121017800	Strong transcription	Liver	Liver
23	chr12:120990800-121018200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:120991400-121018200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:120992000-121017800	Strong transcription	Fetal Lung	lung
26	chr12:120992800-121017800	Strong transcription	Brain Anterior Caudate	brain
27	chr12:120993000-121018000	Strong transcription	Fetal Muscle Leg	muscle
28	chr12:120994600-121017800	Strong transcription	HSMMtube	muscle
29	chr12:120995800-121017800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:120997000-121018000	Strong transcription	Lung	lung
31	chr12:120997800-121017800	Strong transcription	Primary B cells from cord blood	blood
32	chr12:120998000-121017800	Strong transcription	Colonic Mucosa	Colon
33	chr12:120998000-121017800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:120998200-121017800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:120998200-121017800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:120998200-121018000	Strong transcription	Fetal Brain Female	brain
37	chr12:120998400-121017800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:120998400-121017800	Strong transcription	NHEK	skin
39	chr12:120999800-121018000	Strong transcription	Fetal Intestine Small	intestine
40	chr12:121001800-121017800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:121001800-121018200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:121002800-121017800	Strong transcription	Esophagus	oesophagus
43	chr12:121008200-121017800	Strong transcription	HMEC	breast
44	chr12:121008400-121018200	Strong transcription	HSMM	muscle
45	chr12:121010800-121017800	Strong transcription	NH-A	brain
46	chr12:121011600-121017800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:121011600-121017800	Strong transcription	A549	lung
48	chr12:121012000-121018000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:121012000-121018200	Strong transcription	Left Ventricle	heart
50	chr12:121012400-121017800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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