Variant report

Variant	rs12226273
Chromosome Location	chr11:16871442-16871443
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	chr11:16869700..16872673-chr11:16876398..16878604,2	K562	blood:
2	chr11:16869293..16871561-chr11:16878858..16881277,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11024048	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024054	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024058	0.86[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11024059	0.88[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11024061	0.86[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11024069	0.81[EUR][1000 genomes]
rs11024073	0.86[CEU][hapmap];0.85[CHB][hapmap]
rs12222901	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223369	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17698419	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17772101	0.87[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4756870	0.92[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4756871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757441	0.86[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56005045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56156123	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16839200-16878800	Weak transcription	Thymus	Thymus
2	chr11:16842600-16873400	Weak transcription	Hela-S3	cervix
3	chr11:16843000-16874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:16846600-16874000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:16847800-16871600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:16848200-16875200	Weak transcription	Right Ventricle	heart
7	chr11:16848400-16878600	Weak transcription	Small Intestine	intestine
8	chr11:16850600-16871800	Weak transcription	Colonic Mucosa	Colon
9	chr11:16853400-16883800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:16855200-16873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:16855200-16877600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:16855200-16878800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:16858000-16876800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:16858200-16871600	Weak transcription	A549	lung
15	chr11:16858200-16878800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:16858400-16876400	Weak transcription	Brain Germinal Matrix	brain
17	chr11:16861200-16879800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:16861800-16877000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:16861800-16880600	Weak transcription	HMEC	breast
20	chr11:16862200-16871800	Weak transcription	HSMM	muscle
21	chr11:16862200-16875200	Genic enhancers	Fetal Heart	heart
22	chr11:16862200-16876800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:16863200-16871800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:16863400-16875600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:16863400-16875600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:16863400-16882000	Weak transcription	Stomach Mucosa	stomach
27	chr11:16863800-16871600	Weak transcription	Placenta	Placenta
28	chr11:16863800-16875800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:16863800-16884800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:16863800-16892600	Weak transcription	Fetal Kidney	kidney
31	chr11:16864000-16872200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:16864000-16878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:16864200-16882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:16866800-16879000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:16867600-16879200	Strong transcription	Liver	Liver
36	chr11:16867800-16885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:16868400-16872200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:16868600-16871600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:16868600-16873600	Strong transcription	Fetal Intestine Small	intestine
40	chr11:16869200-16876200	Weak transcription	HSMMtube	muscle
41	chr11:16869600-16876200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:16869800-16872000	Strong transcription	Brain Anterior Caudate	brain
43	chr11:16869800-16875600	Weak transcription	Spleen	Spleen
44	chr11:16870000-16871600	Weak transcription	Brain Angular Gyrus	brain
45	chr11:16870000-16872600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:16870000-16874000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:16870200-16872400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:16870400-16878000	Strong transcription	Fetal Intestine Large	intestine
49	chr11:16870800-16873000	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr11:16870800-16879000	Strong transcription	HepG2	liver

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