Variant report

Variant	rs56294719
Chromosome Location	chr13:110866196-110866197
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	chr13:110857435..110860211-chr13:110864399..110867321,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11841329	1.00[EUR][1000 genomes]
rs16975290	1.00[EUR][1000 genomes]
rs521699	1.00[EUR][1000 genomes]
rs57652802	1.00[EUR][1000 genomes]
rs58702949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58824458	1.00[EUR][1000 genomes]
rs60015252	1.00[EUR][1000 genomes]
rs60279490	1.00[EUR][1000 genomes]
rs61661904	1.00[EUR][1000 genomes]
rs626680	1.00[EUR][1000 genomes]
rs645511	1.00[EUR][1000 genomes]
rs666338	1.00[EUR][1000 genomes]
rs7319834	1.00[EUR][1000 genomes]
rs7320392	1.00[EUR][1000 genomes]
rs7326006	1.00[EUR][1000 genomes]
rs7332823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7337040	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73611449	1.00[EUR][1000 genomes]
rs73624503	1.00[EUR][1000 genomes]
rs73624510	1.00[EUR][1000 genomes]
rs73624516	1.00[EUR][1000 genomes]
rs73624520	1.00[EUR][1000 genomes]
rs73624531	1.00[EUR][1000 genomes]
rs7982267	1.00[EUR][1000 genomes]
rs7992629	1.00[EUR][1000 genomes]
rs8000352	1.00[EUR][1000 genomes]
rs9301428	1.00[EUR][1000 genomes]
rs9301430	1.00[EUR][1000 genomes]
rs9583454	1.00[EUR][1000 genomes]
rs9583455	1.00[EUR][1000 genomes]
rs9583456	1.00[EUR][1000 genomes]
rs9583457	1.00[EUR][1000 genomes]
rs9583462	1.00[EUR][1000 genomes]
rs9588085	1.00[EUR][1000 genomes]
rs9588086	1.00[EUR][1000 genomes]
rs9588087	1.00[EUR][1000 genomes]
rs9588099	1.00[EUR][1000 genomes]
rs9588106	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1182	chr13:110829691-110875029	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
2	chr13:110810200-110866400	Strong transcription	Stomach Smooth Muscle	stomach
3	chr13:110826400-110868200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:110826600-110866200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:110826800-110868000	Weak transcription	Brain Anterior Caudate	brain
6	chr13:110827600-110869000	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:110829600-110874400	Weak transcription	A549	lung
8	chr13:110829800-110869600	Weak transcription	Small Intestine	intestine
9	chr13:110830000-110870800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:110830200-110869600	Weak transcription	Fetal Brain Male	brain
11	chr13:110835400-110866800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:110836400-110874200	Weak transcription	Esophagus	oesophagus
13	chr13:110840800-110870200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:110841000-110868200	Weak transcription	NHDF-Ad	bronchial
15	chr13:110841200-110866400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:110841200-110868200	Weak transcription	Right Atrium	heart
17	chr13:110841400-110867800	Strong transcription	Osteobl	bone
18	chr13:110844600-110866200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:110846400-110869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:110846400-110879800	Weak transcription	Pancreas	Pancrea
21	chr13:110850200-110868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:110850600-110866200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:110852000-110868200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:110852000-110869800	Weak transcription	Brain Germinal Matrix	brain
25	chr13:110853000-110866200	Strong transcription	Placenta	Placenta
26	chr13:110853400-110868200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:110853600-110879800	Weak transcription	Gastric	stomach
28	chr13:110854000-110868000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr13:110855400-110866400	Strong transcription	Colon Smooth Muscle	Colon
30	chr13:110855800-110866400	Strong transcription	HSMMtube	muscle
31	chr13:110855800-110866400	Strong transcription	HUVEC	blood vessel
32	chr13:110856800-110866800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr13:110857000-110866200	Strong transcription	Lung	lung
34	chr13:110857200-110866200	Strong transcription	Ovary	ovary
35	chr13:110857200-110866200	Strong transcription	Right Ventricle	heart
36	chr13:110857200-110866600	Strong transcription	Aorta	Aorta
37	chr13:110857200-110867200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr13:110857200-110867800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:110857600-110867200	Strong transcription	Fetal Stomach	stomach
40	chr13:110857600-110868000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:110858800-110867400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr13:110858800-110868400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:110859000-110868000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr13:110859800-110866400	Strong transcription	Fetal Intestine Large	intestine
45	chr13:110859800-110866600	Strong transcription	Fetal Intestine Small	intestine
46	chr13:110860000-110867400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr13:110860800-110866200	Strong transcription	NHEK	skin
48	chr13:110861400-110870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr13:110862400-110866400	Strong transcription	NHLF	lung
50	chr13:110862400-110868400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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