Variant report

Variant	rs72838673
Chromosome Location	chr2:85975398-85975399
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:85975117-85975512	GM12878	blood:	n/a	n/a
2	RCOR1	chr2:85975108-85975751	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr2:85975240-85975572	GM12878	blood:	n/a	n/a
4	MEF2A	chr2:85975192-85975487	GM12878	blood:	n/a	n/a
5	BCLAF1	chr2:85975089-85975559	GM12878	blood:	n/a	n/a
6	NFIC	chr2:85975159-85975581	GM12878	blood:	n/a	n/a
7	SP1	chr2:85975090-85975532	GM12878	blood:	n/a	n/a
8	SPI1	chr2:85975203-85975495	GM12878	blood:	n/a	n/a
9	SPI1	chr2:85974790-85975833	GM12878	blood:	n/a	n/a
10	YY1	chr2:85975133-85975409	GM12891	blood:	n/a	n/a
11	POU2F2	chr2:85975143-85975581	GM12891	blood:	n/a	n/a
12	STAT5A	chr2:85975124-85975624	GM12878	blood:	n/a	n/a
13	EBF1	chr2:85975199-85975633	GM12878	blood:	n/a	chr2:85975485-85975496
14	MAZ	chr2:85975154-85975563	GM12878	blood:	n/a	n/a
15	SPI1	chr2:85974957-85975471	HL-60	blood:	n/a	n/a
16	RUNX3	chr2:85975121-85975632	GM12878	blood:	n/a	n/a
17	BCL11A	chr2:85975197-85975423	GM12878	blood:	n/a	n/a
18	TBP	chr2:85975276-85975485	GM12878	blood:	n/a	n/a
19	MXI1	chr2:85975190-85975509	GM12878	blood:	n/a	n/a
20	SPI1	chr2:85975035-85975622	GM12891	blood:	n/a	n/a
21	BCLAF1	chr2:85975174-85975610	GM12878	blood:	n/a	n/a
22	NFATC1	chr2:85975152-85975449	GM12878	blood:	n/a	n/a
23	ELK1	chr2:85975326-85975460	GM12878	blood:	n/a	n/a
24	EBF1	chr2:85975080-85975590	GM12878	blood:	n/a	chr2:85975485-85975496
25	RUNX3	chr2:85975092-85975622	GM12878	blood:	n/a	n/a
26	TCF12	chr2:85975143-85975468	GM12878	blood:	n/a	n/a
27	EBF1	chr2:85975200-85975652	GM12878	blood:	n/a	chr2:85975485-85975496
28	TCF12	chr2:85975179-85975482	GM12878	blood:	n/a	n/a
29	EP300	chr2:85975106-85975595	GM12878	blood:	n/a	n/a
30	IRF4	chr2:85975072-85975592	GM12878	blood:	n/a	n/a
31	ATF2	chr2:85975085-85975497	GM12878	blood:	n/a	n/a
32	YY1	chr2:85975119-85975506	GM12878	blood:	n/a	n/a
33	EP300	chr2:85975174-85975514	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:85975113-85975525	GM12878	blood:	n/a	n/a
35	SPI1	chr2:85975036-85975560	GM12878	blood:	n/a	n/a
36	ZNF143	chr2:85975277-85975485	GM12878	blood:	n/a	n/a
37	POU2F2	chr2:85975071-85975560	GM12878	blood:	n/a	n/a
38	REST	chr2:85975183-85975437	Hela-S3	cervix:	n/a	n/a
39	IRF4	chr2:85975057-85975620	GM12878	blood:	n/a	n/a
40	EP300	chr2:85975193-85975511	GM12878	blood:	n/a	n/a
41	CHD2	chr2:85975219-85975489	GM12878	blood:	n/a	n/a
42	MTA3	chr2:85975129-85975589	GM12878	blood:	n/a	n/a
43	FOXM1	chr2:85975158-85975591	GM12878	blood:	n/a	n/a
44	SPI1	chr2:85975010-85975589	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:85959891..85961430-chr2:85975278..85976868,2	MCF-7	breast:
2	chr2:85968047..85970017-chr2:85974638..85977440,3	MCF-7	breast:
3	chr2:85974895..85977251-chr2:85979669..85982640,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATOH8	TF binding region
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72842149	1.00[EUR][1000 genomes]
rs72925049	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85971600-85975400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr2:85971600-85977800	Weak transcription	Pancreas	Pancrea
3	chr2:85972200-85976200	Weak transcription	Gastric	stomach
4	chr2:85972400-85975800	Weak transcription	Hela-S3	cervix
5	chr2:85972400-85976200	Weak transcription	Stomach Mucosa	stomach
6	chr2:85972400-85976800	Enhancers	Primary B cells from cord blood	blood
7	chr2:85972400-85978200	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:85972800-85975400	Weak transcription	Liver	Liver
9	chr2:85972800-85975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:85972800-85975800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:85972800-85976000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:85972800-85977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:85973000-85977800	Weak transcription	Brain Germinal Matrix	brain
14	chr2:85973000-85979000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:85973200-85976000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:85973400-85980200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr2:85973600-85975800	Weak transcription	Aorta	Aorta
18	chr2:85973600-85976000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:85973800-85975400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:85973800-85975600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:85973800-85975800	Weak transcription	HSMM	muscle
22	chr2:85973800-85976000	Weak transcription	Brain Angular Gyrus	brain
23	chr2:85973800-85976000	Weak transcription	Brain Anterior Caudate	brain
24	chr2:85973800-85976000	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:85973800-85976000	Weak transcription	Ovary	ovary
26	chr2:85973800-85976000	Weak transcription	Spleen	Spleen
27	chr2:85973800-85976600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:85973800-85977800	Weak transcription	Esophagus	oesophagus
29	chr2:85974000-85975400	Weak transcription	Thymus	Thymus
30	chr2:85974000-85975800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:85974000-85975800	Weak transcription	NHDF-Ad	bronchial
32	chr2:85974000-85976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:85974000-85976200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:85974200-85975400	Weak transcription	Fetal Thymus	thymus
35	chr2:85974200-85975600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:85974200-85976000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:85974400-85975400	Weak transcription	Lung	lung
38	chr2:85974400-85975800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:85974600-85975400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:85974600-85975400	Weak transcription	Left Ventricle	heart
41	chr2:85974600-85976400	ZNF genes & repeats	GM12878-XiMat	blood
42	chr2:85974600-85976800	Enhancers	Right Atrium	heart
43	chr2:85974600-85977600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:85974800-85975600	Weak transcription	Brain Substantia Nigra	brain
45	chr2:85974800-85975800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:85974800-85976000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:85974800-85980400	Enhancers	Fetal Heart	heart
48	chr2:85975000-85976200	Enhancers	HSMMtube	muscle
49	chr2:85975000-85978000	Enhancers	Adipose Nuclei	Adipose
50	chr2:85975200-85975600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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