Variant report

Variant	rs11522340
Chromosome Location	chr12:123958937-123958938
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	chr12:123957896..123960389-chr12:123963228..123966813,3	K562	blood:
2	chr12:123944654..123946936-chr12:123957621..123961049,4	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11497308	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11497312	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11497313	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11507739	1.00[ASN][1000 genomes]
rs11507744	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11516176	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11516178	1.00[ASN][1000 genomes]
rs11534428	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559494	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11560820	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13303266	1.00[ASN][1000 genomes]
rs13303358	1.00[ASN][1000 genomes]
rs28483351	1.00[ASN][1000 genomes]
rs28613273	1.00[ASN][1000 genomes]
rs28728075	1.00[ASN][1000 genomes]
rs28829651	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087496	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34031619	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35322317	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4047517	1.00[ASN][1000 genomes]
rs4078291	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479070	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6606747	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300562	1.00[ASN][1000 genomes]
rs7315901	1.00[ASN][1000 genomes]
rs73412280	1.00[ASN][1000 genomes]
rs7975636	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978323	1.00[ASN][1000 genomes]
rs9330649	1.00[ASN][1000 genomes]
rs9330650	1.00[ASN][1000 genomes]
rs9697264	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697459	1.00[ASN][1000 genomes]
rs9697616	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697628	1.00[ASN][1000 genomes]
rs9697735	1.00[ASN][1000 genomes]
rs9723046	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9723192	1.00[ASN][1000 genomes]
rs9777813	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9778112	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123943800-123959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:123943800-123959600	Weak transcription	Psoas Muscle	Psoas
3	chr12:123943800-123961200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
5	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
6	chr12:123944800-123964600	Weak transcription	Small Intestine	intestine
7	chr12:123945200-123959200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:123945800-123965600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:123946000-123965600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:123946800-123959200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:123947600-123971800	Strong transcription	Fetal Intestine Small	intestine
12	chr12:123948200-123962800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:123949000-123966200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:123949000-123984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:123950000-123963200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:123950400-123973000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:123950800-123961400	Weak transcription	Right Atrium	heart
18	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
19	chr12:123953800-123968200	Weak transcription	GM12878-XiMat	blood
20	chr12:123954200-123964600	Strong transcription	Fetal Lung	lung
21	chr12:123954200-123971000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:123954400-123961200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:123955200-123971000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:123956000-123965600	Strong transcription	Fetal Brain Female	brain
25	chr12:123956600-123959200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:123956800-123959000	Weak transcription	Stomach Mucosa	stomach
27	chr12:123956800-123961200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:123956800-123961600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr12:123956800-123963200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:123956800-123964400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:123956800-123973400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:123956800-123993400	Weak transcription	HMEC	breast
33	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
34	chr12:123957000-123966400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:123957200-123959200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:123957200-123959600	Weak transcription	Thymus	Thymus
37	chr12:123957200-123965000	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:123957400-123959200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:123957400-123959600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:123957400-123959600	Weak transcription	NHEK	skin
41	chr12:123957400-123960200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:123957400-123962000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:123957400-123963200	Weak transcription	Gastric	stomach
44	chr12:123957400-123965000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:123957400-123965200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:123957400-123968200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:123957400-123968400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:123957400-123972800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:123957400-123973000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:123957400-123982400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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