Variant report

Variant	rs645511
Chromosome Location	chr13:110871418-110871419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
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[CEU][hapmap];1.00[EUR][1000 genomes]
rs56294719	1.00[EUR][1000 genomes]
rs57652802	1.00[EUR][1000 genomes]
rs58702949	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]
rs666338	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];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[EUR][1000 genomes]
rs7337040	1.00[CEU][hapmap];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[CEU][hapmap];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:5 , 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
4	esv3346729	chr13:110871090-110871623	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
5	esv3420463	chr13:110871226-110873474	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110829600-110874400	Weak transcription	A549	lung
2	chr13:110836400-110874200	Weak transcription	Esophagus	oesophagus
3	chr13:110846400-110879800	Weak transcription	Pancreas	Pancrea
4	chr13:110853600-110879800	Weak transcription	Gastric	stomach
5	chr13:110865400-110874400	Weak transcription	Colonic Mucosa	Colon
6	chr13:110866000-110873400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:110866200-110874000	Weak transcription	NHEK	skin
8	chr13:110866200-110882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:110866400-110885000	Weak transcription	Fetal Intestine Large	intestine
10	chr13:110866600-110874200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:110866600-110874200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:110866600-110874400	Weak transcription	Fetal Intestine Small	intestine
13	chr13:110867000-110871800	Enhancers	Fetal Lung	lung
14	chr13:110867200-110871600	Enhancers	Rectal Smooth Muscle	rectum
15	chr13:110867200-110871800	Enhancers	Fetal Muscle Leg	muscle
16	chr13:110868000-110871600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:110868000-110871800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:110868200-110871600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:110868200-110871600	Enhancers	Placenta	Placenta
20	chr13:110868200-110871600	Enhancers	Right Atrium	heart
21	chr13:110868200-110872000	Enhancers	NHDF-Ad	bronchial
22	chr13:110868400-110871600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:110868400-110872000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr13:110868400-110874400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr13:110868400-110874400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:110868600-110881400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:110868800-110871800	Enhancers	NHLF	lung
28	chr13:110869000-110898800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr13:110869400-110872000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:110869400-110883600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:110869800-110873000	Weak transcription	Ovary	ovary
32	chr13:110869800-110874000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:110869800-110874200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:110869800-110874400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:110869800-110879800	Weak transcription	Psoas Muscle	Psoas
36	chr13:110869800-110883200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:110870000-110873000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr13:110870000-110873200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:110870000-110873200	Weak transcription	Fetal Stomach	stomach
40	chr13:110870000-110874200	Weak transcription	HMEC	breast
41	chr13:110870000-110874400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:110870000-110874400	Weak transcription	HSMMtube	muscle
43	chr13:110870200-110874200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr13:110870200-110874200	Weak transcription	HUVEC	blood vessel
45	chr13:110870200-110874400	Weak transcription	Brain Angular Gyrus	brain
46	chr13:110870200-110878200	Weak transcription	Fetal Kidney	kidney
47	chr13:110870200-110878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:110870200-110881200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:110870400-110874400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:110870600-110871600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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