Variant report

Variant	rs72882770
Chromosome Location	chr2:47600660-47600661
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	GATA3	chr2:47600647-47600834	SH-SY5Y	brain:	n/a	n/a
2	CTCF	chr2:47600572-47601471	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47401904..47404708-chr2:47598417..47601115,2	MCF-7	breast:
2	chr2:47559485..47574826-chr2:47594341..47605593,65	MCF-7	breast:

Variant related genes	Relation type
MIR559	TF binding region
EPCAM	TF binding region
ENSG00000143933	Chromatin interaction
ENSG00000234690	Chromatin interaction
ENSG00000119888	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs57279207	1.00[AFR][1000 genomes]
rs57652834	1.00[AFR][1000 genomes]
rs57831950	1.00[AMR][1000 genomes]
rs57916992	1.00[AMR][1000 genomes]
rs57945178	1.00[AMR][1000 genomes]
rs58882508	1.00[AMR][1000 genomes]
rs58931241	1.00[AMR][1000 genomes]
rs59248614	1.00[AMR][1000 genomes]
rs59927838	1.00[AMR][1000 genomes]
rs59991093	1.00[AFR][1000 genomes]
rs60068970	1.00[AMR][1000 genomes]
rs60358586	1.00[AMR][1000 genomes]
rs60518577	1.00[AMR][1000 genomes]
rs60887102	1.00[AMR][1000 genomes]
rs60998282	1.00[AMR][1000 genomes]
rs61212083	1.00[AMR][1000 genomes]
rs61451736	1.00[AMR][1000 genomes]
rs72882704	1.00[AMR][1000 genomes]
rs72882709	1.00[AMR][1000 genomes]
rs72882712	1.00[AMR][1000 genomes]
rs72882715	1.00[AMR][1000 genomes]
rs72882780	1.00[AFR][1000 genomes]
rs72882797	1.00[AFR][1000 genomes]
rs72882798	1.00[AFR][1000 genomes]
rs72884684	1.00[AFR][1000 genomes]
rs72884688	1.00[AFR][1000 genomes]
rs72884694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886311	1.00[AMR][1000 genomes]
rs72886331	1.00[AMR][1000 genomes]
rs72886333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886367	1.00[AMR][1000 genomes]
rs72888235	1.00[AMR][1000 genomes]
rs72888241	1.00[AMR][1000 genomes]
rs72888249	1.00[AMR][1000 genomes]
rs72888257	1.00[AMR][1000 genomes]
rs72888260	1.00[AMR][1000 genomes]
rs72888262	1.00[AMR][1000 genomes]
rs72888268	1.00[AMR][1000 genomes]
rs72888274	1.00[AMR][1000 genomes]
rs72888288	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv520660	chr2:47590034-47601106	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47596000-47601000	Active TSS	Rectal Smooth Muscle	rectum
2	chr2:47597200-47600800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:47597200-47610600	Weak transcription	Right Atrium	heart
4	chr2:47597200-47615000	Weak transcription	Esophagus	oesophagus
5	chr2:47597200-47619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:47597400-47600800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:47597400-47601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:47597400-47601000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:47597400-47601000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:47597400-47601200	Active TSS	Colonic Mucosa	Colon
11	chr2:47597400-47602600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:47597400-47604000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:47597400-47607000	Weak transcription	Gastric	stomach
14	chr2:47597400-47614800	Weak transcription	HMEC	breast
15	chr2:47597400-47617000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:47597400-47629400	Weak transcription	NHEK	skin
17	chr2:47597600-47615400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:47598400-47603400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:47598400-47604200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:47598600-47601600	Weak transcription	Fetal Brain Male	brain
21	chr2:47598600-47604200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:47598600-47607000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:47598600-47607000	Weak transcription	Pancreas	Pancrea
24	chr2:47598600-47607200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:47598600-47613000	Weak transcription	Lung	lung
26	chr2:47598800-47601000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:47598800-47601000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:47598800-47601200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr2:47599000-47601200	Active TSS	Duodenum Mucosa	Duodenum
30	chr2:47599000-47601400	Active TSS	Fetal Intestine Large	intestine
31	chr2:47599000-47606200	Weak transcription	Fetal Kidney	kidney
32	chr2:47599200-47608000	Weak transcription	Fetal Stomach	stomach
33	chr2:47599400-47600800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:47599400-47600800	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr2:47599400-47601400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
36	chr2:47599400-47602400	Weak transcription	K562	blood
37	chr2:47599400-47603800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:47599600-47601000	Enhancers	HepG2	liver
39	chr2:47600000-47602800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:47600200-47617800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:47600400-47616800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:47600600-47601000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:47600600-47601000	Enhancers	A549	lung
44	chr2:47600600-47601200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr2:47600600-47601200	Enhancers	Stomach Mucosa	stomach
46	chr2:47600600-47601400	Enhancers	Fetal Lung	lung
47	chr2:47600600-47614000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:47600600-47617200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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