Variant report

Variant	rs2025906
Chromosome Location	chr13:111138538-111138539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111137005..111139926-chr13:111365403..111367570,2	K562	blood:
2	chr13:111137982..111139929-chr13:111150615..111152724,2	K562	blood:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7324721	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521806	1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	nsv1039297	chr13:111101507-111138863	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv541923	chr13:111101507-111138863	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
2	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
3	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
4	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
5	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
7	chr13:111109600-111158800	Strong transcription	Ovary	ovary
8	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:111114200-111138800	Strong transcription	Aorta	Aorta
11	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:111119000-111142600	Weak transcription	Stomach Mucosa	stomach
13	chr13:111119000-111143600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
15	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:111119600-111139800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
18	chr13:111124200-111144600	Weak transcription	Liver	Liver
19	chr13:111124400-111139000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr13:111124400-111152000	Strong transcription	Osteobl	bone
21	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
23	chr13:111127400-111147400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr13:111127400-111148200	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:111127400-111148600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:111127600-111144600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:111127600-111148600	Strong transcription	Lung	lung
28	chr13:111127600-111153000	Weak transcription	Brain Substantia Nigra	brain
29	chr13:111127600-111156200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr13:111127800-111147800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:111128800-111146000	Strong transcription	Fetal Lung	lung
32	chr13:111129200-111142400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr13:111130600-111139400	Strong transcription	Spleen	Spleen
34	chr13:111130600-111155400	Strong transcription	Left Ventricle	heart
35	chr13:111131000-111149200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr13:111131000-111151200	Weak transcription	Right Atrium	heart
37	chr13:111131000-111151800	Strong transcription	HUVEC	blood vessel
38	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
39	chr13:111131400-111158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr13:111131800-111159400	Weak transcription	Esophagus	oesophagus
41	chr13:111132200-111151800	Strong transcription	Adipose Nuclei	Adipose
42	chr13:111132200-111152200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:111132200-111158400	Strong transcription	Colon Smooth Muscle	Colon
44	chr13:111132200-111158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:111132400-111139000	Strong transcription	Right Ventricle	heart
46	chr13:111133800-111138800	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr13:111134400-111138800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:111134400-111138800	Strong transcription	Pancreas	Pancrea
49	chr13:111134800-111138600	Weak transcription	K562	blood
50	chr13:111135400-111143400	Weak transcription	Fetal Brain Female	brain

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