Variant report

Variant	rs68090726
Chromosome Location	chr2:113962835-113962836
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113956911..113959239-chr2:113960727..113963043,2	MCF-7	breast:
2	chr2:113960268..113963135-chr2:113993103..113996129,3	MCF-7	breast:
3	chr2:113960427..113963298-chr2:114003216..114006590,3	MCF-7	breast:
4	chr2:113962501..113963279-chr2:114127874..114128718,2	K562	blood:
5	chr2:113836433..113838367-chr2:113961484..113963853,2	MCF-7	breast:
6	chr2:113961854..113963541-chr2:113993212..113994812,2	MCF-7	breast:
7	chr2:113960353..113963202-chr2:113996629..113998923,2	K562	blood:
8	chr2:113941683..113943578-chr2:113962080..113965025,3	K562	blood:
9	chr2:113881134..113884097-chr2:113960459..113963321,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125618	Chromatin interaction
ENSG00000258395	Chromatin interaction
ENSG00000125637	Chromatin interaction
ENSG00000189223	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13407583	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1478	0.81[EUR][1000 genomes]
rs2305132	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6542124	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6755077	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs752590	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7560180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][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	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv582712	chr2:113932431-113985170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv874900	chr2:113948378-113967990	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113957200-113969000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:113957200-113969000	Weak transcription	Right Atrium	heart
3	chr2:113957400-113967000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:113957400-113967800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:113957400-113969000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:113957400-113982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:113958000-113975200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:113958200-113966400	Weak transcription	HSMMtube	muscle
9	chr2:113959000-113966600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:113959200-113968800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:113959200-113968800	Weak transcription	K562	blood
12	chr2:113959600-113967000	Weak transcription	Colonic Mucosa	Colon
13	chr2:113959600-113967600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:113960400-113963400	Weak transcription	Lung	lung
15	chr2:113960400-113963600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:113960600-113963800	Weak transcription	Esophagus	oesophagus
17	chr2:113960600-113966200	Weak transcription	Fetal Stomach	stomach
18	chr2:113960600-113975200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:113960800-113963400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:113960800-113968600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:113960800-113969600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:113960800-113974600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:113960800-113975000	Weak transcription	Liver	Liver
24	chr2:113961000-113963800	Weak transcription	Placenta	Placenta
25	chr2:113961000-113966200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:113961000-113966200	Weak transcription	HSMM	muscle
27	chr2:113961000-113967200	Weak transcription	Thymus	Thymus
28	chr2:113961000-113968400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:113961200-113963400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:113961600-113963200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr2:113961800-113966600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:113962000-113964000	Weak transcription	Fetal Kidney	kidney
33	chr2:113962000-113966200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:113962000-113966400	Weak transcription	NH-A	brain
35	chr2:113962000-113966600	Weak transcription	Stomach Mucosa	stomach
36	chr2:113962000-113966600	Weak transcription	NHDF-Ad	bronchial
37	chr2:113962000-113969600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:113962200-113963400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:113962200-113963400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:113962200-113963400	Weak transcription	Pancreas	Pancrea
41	chr2:113962200-113963400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:113962200-113966200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:113962200-113966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:113962200-113966400	Weak transcription	Hela-S3	cervix
45	chr2:113962200-113967000	Weak transcription	NHEK	skin
46	chr2:113962200-113967200	Weak transcription	HMEC	breast
47	chr2:113962200-113968400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:113962200-113969000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:113962200-113969400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:113962200-113974800	Weak transcription	GM12878-XiMat	blood

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