Variant report

Variant	rs541568235
Chromosome Location	chr2:20449723-20449724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20441943-20449974	K562	blood:	n/a	n/a
2	POLR2A	chr2:20446318-20449896	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20444231..20447122-chr2:20447752..20449794,2	K562	blood:
2	chr2:20441679..20444514-chr2:20449489..20452544,3	K562	blood:

Variant related genes	Relation type
RNU7-113P	TF binding region
ENSG00000238735	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	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv524207	chr2:20448561-20503436	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:20436600-20452600	Weak transcription	Gastric	stomach
4	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:20439800-20450200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:20440600-20451000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:20440600-20452600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:20440800-20452200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:20440800-20452600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:20441400-20453000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:20442000-20450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:20442000-20450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:20442000-20450600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:20442000-20451000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:20442000-20451200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:20442000-20452600	Weak transcription	Fetal Heart	heart
17	chr2:20442000-20453400	Weak transcription	Pancreas	Pancrea
18	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:20442200-20451400	Weak transcription	K562	blood
20	chr2:20442200-20452600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:20442800-20455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:20442800-20474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:20443000-20451400	Weak transcription	HSMMtube	muscle
24	chr2:20443000-20456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:20443200-20451600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:20444200-20452600	Weak transcription	Brain Anterior Caudate	brain
27	chr2:20444200-20457200	Strong transcription	A549	lung
28	chr2:20444400-20489000	Weak transcription	Stomach Mucosa	stomach
29	chr2:20444600-20452600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:20444800-20452800	Weak transcription	Psoas Muscle	Psoas
31	chr2:20445000-20451400	Weak transcription	Small Intestine	intestine
32	chr2:20445200-20452600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:20445200-20452800	Weak transcription	Ovary	ovary
34	chr2:20445400-20450400	Strong transcription	Primary T cells from cord blood	blood
35	chr2:20445400-20457000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:20445400-20463600	Strong transcription	Fetal Thymus	thymus
37	chr2:20445400-20473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:20445600-20453000	Weak transcription	Aorta	Aorta
39	chr2:20445600-20456600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:20445800-20450200	Weak transcription	Fetal Brain Male	brain
41	chr2:20445800-20456600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:20445800-20463600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:20445800-20465400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:20446000-20463400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:20446000-20464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:20446000-20464600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:20446200-20450000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:20446200-20456000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr2:20446200-20456600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:20446200-20459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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