Variant report

Variant	rs58702949
Chromosome Location	chr13:110851517-110851518
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110844249..110846564-chr13:110849150..110851645,2	K562	blood:

Extended variants
information (count: 46 )
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]
rs56294719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57652802	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:8 , 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	nsv456116	chr13:110818598-110856153	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv563101	chr13:110818598-110856153	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	nsv456117	chr13:110842153-110852220	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv563102	chr13:110842153-110852220	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv456118	chr13:110844188-110851808	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv563103	chr13:110844188-110851808	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
2	chr13:110798800-110853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:110806600-110860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:110810200-110866400	Strong transcription	Stomach Smooth Muscle	stomach
5	chr13:110826400-110868200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:110826600-110858600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:110826600-110866200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:110826800-110868000	Weak transcription	Brain Anterior Caudate	brain
9	chr13:110827600-110869000	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:110829000-110865000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:110829600-110874400	Weak transcription	A549	lung
12	chr13:110829800-110869600	Weak transcription	Small Intestine	intestine
13	chr13:110830000-110870800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:110830200-110869600	Weak transcription	Fetal Brain Male	brain
15	chr13:110831000-110866000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr13:110834600-110858400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:110835200-110858600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:110835400-110866800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:110835600-110854600	Weak transcription	Fetal Brain Female	brain
20	chr13:110835600-110858400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:110836400-110874200	Weak transcription	Esophagus	oesophagus
22	chr13:110836600-110851600	Weak transcription	Brain Germinal Matrix	brain
23	chr13:110840200-110856000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:110840800-110870200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:110841000-110868200	Weak transcription	NHDF-Ad	bronchial
26	chr13:110841200-110851600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:110841200-110855200	Strong transcription	HSMM	muscle
28	chr13:110841200-110865600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr13:110841200-110866000	Strong transcription	NH-A	brain
30	chr13:110841200-110866400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:110841200-110868200	Weak transcription	Right Atrium	heart
32	chr13:110841400-110867800	Strong transcription	Osteobl	bone
33	chr13:110841800-110863600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr13:110842000-110853200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr13:110842000-110854600	Strong transcription	Fetal Muscle Leg	muscle
36	chr13:110843200-110854400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:110843400-110857200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr13:110843800-110854400	Strong transcription	HUVEC	blood vessel
39	chr13:110843800-110854600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:110844200-110854200	Strong transcription	Right Ventricle	heart
41	chr13:110844200-110854600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:110844600-110866200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:110845200-110857200	Weak transcription	HMEC	breast
44	chr13:110845400-110865800	Strong transcription	Adipose Nuclei	Adipose
45	chr13:110846400-110852000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:110846400-110852600	Weak transcription	Gastric	stomach
47	chr13:110846400-110853600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:110846400-110869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr13:110846400-110879800	Weak transcription	Pancreas	Pancrea
50	chr13:110846600-110852800	Weak transcription	Fetal Kidney	kidney

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