Variant report

Variant	rs547956557
Chromosome Location	chr2:20441627-20441628
allele	A/C
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	CTCF	chr2:20441535-20442938	A549	lung:	n/a	chr2:20442906-20442915 chr2:20442579-20442588
2	POLR2A	chr2:20441552-20442239	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:20441272-20443298	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20422151..20423763-chr2:20440457..20442911,2	MCF-7	breast:
2	chr2:20438741..20440683-chr2:20441500..20444456,2	MCF-7	breast:
3	chr2:20437602..20439619-chr2:20440851..20444211,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235411	TF binding region
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798036	chr2:20423264-20442631	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1846193	chr2:20423264-20442631	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1849406	chr2:20423264-20442631	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	esv3449290	chr2:20441521-20443469	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20426000-20447000	Weak transcription	GM12878-XiMat	blood
2	chr2:20431400-20446800	Weak transcription	Spleen	Spleen
3	chr2:20431800-20444200	Weak transcription	A549	lung
4	chr2:20431800-20446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:20433000-20441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:20436200-20446600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:20436200-20447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:20436600-20452600	Weak transcription	Gastric	stomach
11	chr2:20436800-20441800	Weak transcription	Esophagus	oesophagus
12	chr2:20436800-20445800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:20437000-20446400	Weak transcription	Hela-S3	cervix
14	chr2:20437000-20447000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:20437200-20441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20437600-20441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:20437800-20448000	Weak transcription	HMEC	breast
19	chr2:20438000-20445600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:20439400-20447200	Weak transcription	Primary B cells from cord blood	blood
21	chr2:20439800-20450200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:20440200-20444400	Enhancers	Placenta	Placenta
23	chr2:20440600-20443000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:20440600-20446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:20440600-20447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:20440600-20451000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:20440600-20452600	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:20440800-20445600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:20440800-20452200	Weak transcription	Brain Angular Gyrus	brain
30	chr2:20440800-20452600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:20441000-20441800	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:20441000-20441800	Weak transcription	Pancreas	Pancrea
33	chr2:20441200-20442000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:20441400-20441800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr2:20441400-20441800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:20441400-20441800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:20441400-20441800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:20441400-20441800	Enhancers	Fetal Intestine Large	intestine
39	chr2:20441400-20441800	Enhancers	Fetal Intestine Small	intestine
40	chr2:20441400-20442000	Enhancers	Primary B cells from peripheral blood	blood
41	chr2:20441400-20442000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:20441400-20442000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:20441400-20442000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:20441400-20442000	Enhancers	Colon Smooth Muscle	Colon
45	chr2:20441400-20442000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:20441400-20442000	Enhancers	Right Atrium	heart
47	chr2:20441400-20442000	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:20441400-20442200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:20441400-20442800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:20441400-20453000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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