Variant report

Variant	rs2296846
Chromosome Location	chr13:111176634-111176635
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111159158..111160698-chr13:111176140..111178279,2	MCF-7	breast:
2	chr13:111173040..111177244-chr13:111365856..111368723,3	MCF-7	breast:
3	chr13:111160160..111164294-chr13:111174560..111180121,5	MCF-7	breast:
4	chr13:111175089..111177508-chr13:111178295..111180453,3	MCF-7	breast:
5	chr13:111175845..111178130-chr13:111179058..111181317,2	K562	blood:
6	chr13:111176604..111179029-chr13:111215041..111217071,2	MCF-7	breast:
7	chr13:111175360..111178796-chr13:111180023..111183032,3	MCF-7	breast:
8	chr13:111107007..111108826-chr13:111174960..111176925,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153487	Chromatin interaction
ENSG00000134871	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000232814	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10047685	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10220027	0.89[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1059289	0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3742190	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
7	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
8	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111159600-111176800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:111162600-111177200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:111165400-111179800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:111165800-111179400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:111166600-111176800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:111167000-111190800	Weak transcription	Fetal Kidney	kidney
8	chr13:111167200-111179600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr13:111167400-111176800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:111169600-111178600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr13:111171400-111178200	Enhancers	Fetal Brain Male	brain
12	chr13:111173000-111180000	Enhancers	Right Atrium	heart
13	chr13:111173400-111176800	Strong transcription	Fetal Stomach	stomach
14	chr13:111173400-111183200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr13:111173600-111176800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:111173600-111176800	Weak transcription	Esophagus	oesophagus
17	chr13:111173600-111176800	Weak transcription	Ovary	ovary
18	chr13:111173600-111179600	Weak transcription	Fetal Lung	lung
19	chr13:111173800-111176800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:111173800-111180000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:111174000-111176800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr13:111174000-111176800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr13:111174000-111176800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:111174000-111176800	Weak transcription	HSMM	muscle
25	chr13:111174000-111177200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:111174000-111179800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:111174200-111177000	Weak transcription	Primary B cells from cord blood	blood
28	chr13:111174200-111177000	Weak transcription	Brain Hippocampus Middle	brain
29	chr13:111174200-111177600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:111174400-111178000	Enhancers	Aorta	Aorta
31	chr13:111174600-111176800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:111174600-111177200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:111174600-111177400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:111175000-111178000	Enhancers	Fetal Brain Female	brain
35	chr13:111175000-111178400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:111175200-111182000	Enhancers	Fetal Heart	heart
37	chr13:111175400-111177200	Strong transcription	HepG2	liver
38	chr13:111175400-111180200	Enhancers	Fetal Muscle Leg	muscle
39	chr13:111175600-111177400	Enhancers	Fetal Thymus	thymus
40	chr13:111175800-111177000	Enhancers	Small Intestine	intestine
41	chr13:111176000-111176800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr13:111176000-111178400	Genic enhancers	Gastric	stomach
43	chr13:111176000-111180400	Enhancers	Left Ventricle	heart
44	chr13:111176000-111182400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr13:111176000-111185800	Enhancers	Stomach Mucosa	stomach
46	chr13:111176200-111176800	Enhancers	Liver	Liver
47	chr13:111176200-111176800	Enhancers	Colonic Mucosa	Colon
48	chr13:111176200-111176800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr13:111176200-111176800	Weak transcription	GM12878-XiMat	blood
50	chr13:111176200-111177000	Enhancers	Fetal Muscle Trunk	muscle

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