Variant report

Variant	rs2148082
Chromosome Location	chr13:111167117-111167118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111166149..111167793-chr13:111205225..111207566,2	MCF-7	breast:
2	chr13:111158203..111160746-chr13:111166257..111168545,2	K562	blood:
3	chr13:111166073..111168474-chr13:111201353..111203309,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232814	Chromatin interaction
ENSG00000134871	Chromatin interaction

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

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

rs_ID	r²[population]
rs10509	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12584142	0.90[EUR][1000 genomes]
rs12585676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs448363	0.80[EUR][1000 genomes]
rs913400	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9521815	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv901009	chr13:111134780-111176393	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv563121	chr13:111155363-111168488	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	n/a
10	nsv984479	chr13:111157297-111176429	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a
11	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:111150800-111167200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:111152600-111168000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:111153000-111168000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:111153400-111172800	Weak transcription	Brain Substantia Nigra	brain
8	chr13:111155200-111175600	Weak transcription	Fetal Thymus	thymus
9	chr13:111159600-111167600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:111159600-111172200	Weak transcription	Brain Hippocampus Middle	brain
11	chr13:111159600-111176800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:111159800-111167800	Strong transcription	NH-A	brain
13	chr13:111159800-111167800	Strong transcription	Osteobl	bone
14	chr13:111159800-111168200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:111160000-111167800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr13:111160000-111172800	Weak transcription	Brain Anterior Caudate	brain
17	chr13:111160200-111167600	Strong transcription	Aorta	Aorta
18	chr13:111160800-111167800	Strong transcription	Lung	lung
19	chr13:111160800-111172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:111160800-111172600	Weak transcription	Esophagus	oesophagus
21	chr13:111160800-111176400	Weak transcription	Psoas Muscle	Psoas
22	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:111161000-111168000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:111161200-111173000	Weak transcription	Brain Germinal Matrix	brain
25	chr13:111162000-111167400	Strong transcription	Ovary	ovary
26	chr13:111162400-111173000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr13:111162600-111168000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:111162600-111169800	Weak transcription	NHDF-Ad	bronchial
29	chr13:111162600-111177200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:111162800-111167400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:111163000-111167400	Strong transcription	Fetal Intestine Small	intestine
32	chr13:111163000-111168000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:111163000-111172200	Weak transcription	HepG2	liver
34	chr13:111163200-111167200	Strong transcription	Placenta	Placenta
35	chr13:111163200-111167400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:111163200-111167600	Strong transcription	Adipose Nuclei	Adipose
37	chr13:111163200-111167600	Weak transcription	GM12878-XiMat	blood
38	chr13:111163200-111167800	Strong transcription	Fetal Muscle Leg	muscle
39	chr13:111163200-111167800	Strong transcription	Left Ventricle	heart
40	chr13:111163200-111168200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:111163200-111169000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:111163200-111169600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr13:111163200-111171400	Weak transcription	Fetal Brain Male	brain
44	chr13:111163200-111175400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr13:111163400-111167200	Strong transcription	Spleen	Spleen
46	chr13:111163400-111168000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr13:111163400-111169800	Weak transcription	Stomach Mucosa	stomach
48	chr13:111163400-111173000	Weak transcription	Right Atrium	heart
49	chr13:111163600-111167600	Strong transcription	Right Ventricle	heart
50	chr13:111163600-111167800	Strong transcription	Pancreas	Pancrea

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