Variant report

Variant	rs11045248
Chromosome Location	chr12:20596298-20596299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10841527	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs11045247	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11045249	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11045250	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12314390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7134150	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73239573	1.00[ASN][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20573800-20599800	Weak transcription	Left Ventricle	heart
2	chr12:20578800-20597000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:20587600-20599000	Weak transcription	Right Atrium	heart
4	chr12:20587800-20596600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:20588200-20618400	Weak transcription	Ovary	ovary
6	chr12:20589200-20596800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:20589200-20597800	Weak transcription	Aorta	Aorta
8	chr12:20589400-20603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:20589600-20596800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:20590800-20597600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:20591200-20596600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:20591400-20596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:20591600-20596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:20592000-20597600	Weak transcription	Right Ventricle	heart
15	chr12:20592000-20597800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:20592000-20598600	Weak transcription	Fetal Stomach	stomach
17	chr12:20592000-20600400	Weak transcription	HUVEC	blood vessel
18	chr12:20592200-20597600	Weak transcription	Osteobl	bone
19	chr12:20592800-20603600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:20593600-20596400	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:20593600-20596800	Weak transcription	NHDF-Ad	bronchial
22	chr12:20593800-20596400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:20594400-20596800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:20595600-20596800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:20595600-20597600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:20595600-20598800	Weak transcription	Pancreas	Pancrea
27	chr12:20595600-20599000	Weak transcription	Gastric	stomach
28	chr12:20595600-20599000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:20596000-20596800	Strong transcription	Hela-S3	cervix
30	chr12:20596200-20597800	Enhancers	Fetal Intestine Large	intestine
31	chr12:20596200-20598200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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