Variant report

Variant	rs2116016
Chromosome Location	chr2:10110666-10110667
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10102444..10109047-chr2:10109192..10115495,9	MCF-7	breast:
2	chr2:10105826..10108731-chr2:10110445..10113153,2	K562	blood:
3	chr2:10100605..10103571-chr2:10109016..10111061,2	MCF-7	breast:
4	chr2:10109306..10112948-chr2:10113189..10116781,5	MCF-7	breast:
5	chr2:10110373..10112449-chr2:10116359..10118235,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1052835	0.80[GIH][hapmap]
rs16867274	0.80[GIH][hapmap]
rs1864541	0.91[CHB][hapmap]
rs2303918	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3791749	0.80[GIH][hapmap]
rs6708858	0.81[ASW][hapmap];0.92[LWK][hapmap];0.82[MKK][hapmap]
rs7570826	0.95[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10092600-10112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10092600-10113400	Weak transcription	Left Ventricle	heart
3	chr2:10093600-10112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:10094800-10124400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:10095000-10112600	Weak transcription	Hela-S3	cervix
6	chr2:10099000-10115400	Strong transcription	Liver	Liver
7	chr2:10101000-10113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:10101000-10117000	Strong transcription	HepG2	liver
9	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:10101600-10113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:10101600-10116400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:10101800-10114800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:10102400-10116600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:10104800-10112600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:10104800-10112600	Weak transcription	Gastric	stomach
19	chr2:10105600-10111000	Weak transcription	Fetal Kidney	kidney
20	chr2:10106000-10112600	Weak transcription	Pancreas	Pancrea
21	chr2:10106000-10119800	Weak transcription	Dnd41	blood
22	chr2:10107400-10111000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:10107800-10112400	Weak transcription	Stomach Mucosa	stomach
24	chr2:10109000-10112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:10109400-10110800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:10109400-10112400	Weak transcription	Esophagus	oesophagus
27	chr2:10109400-10112600	Weak transcription	K562	blood
28	chr2:10109400-10115600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:10109600-10112600	Weak transcription	Lung	lung
30	chr2:10109600-10112800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:10109600-10112800	Weak transcription	Fetal Thymus	thymus
32	chr2:10110200-10111000	Enhancers	Colon Smooth Muscle	Colon
33	chr2:10110200-10117800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:10110400-10110800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:10110400-10110800	Genic enhancers	Placenta	Placenta
36	chr2:10110400-10111000	Enhancers	Adipose Nuclei	Adipose
37	chr2:10110400-10111000	Enhancers	Fetal Heart	heart
38	chr2:10110400-10111000	Enhancers	Fetal Muscle Leg	muscle
39	chr2:10110400-10111000	Enhancers	Fetal Stomach	stomach
40	chr2:10110400-10112000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:10110400-10113200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:10110400-10113400	Enhancers	Ovary	ovary
43	chr2:10110400-10113600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:10110400-10115200	Bivalent Enhancer	Fetal Lung	lung
45	chr2:10110400-10116200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:10110600-10110800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:10110600-10111000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:10110600-10111200	Enhancers	Psoas Muscle	Psoas
49	chr2:10110600-10111200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:10110600-10111600	Enhancers	Rectal Smooth Muscle	rectum

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