Variant report

Variant	rs12365123
Chromosome Location	chr11:94195248-94195249
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94183974..94185530-chr11:94194298..94197151,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10501815	0.95[EUR][1000 genomes]
rs10765682	0.95[EUR][1000 genomes]
rs10831219	0.90[EUR][1000 genomes]
rs10831223	0.95[EUR][1000 genomes]
rs10831224	0.95[EUR][1000 genomes]
rs10831228	0.84[EUR][1000 genomes]
rs10831229	0.95[EUR][1000 genomes]
rs10831230	0.95[EUR][1000 genomes]
rs10831232	0.95[EUR][1000 genomes]
rs10831234	0.87[EUR][1000 genomes]
rs11020768	0.92[EUR][1000 genomes]
rs11020773	0.95[EUR][1000 genomes]
rs11020778	0.84[EUR][1000 genomes]
rs11020779	0.95[EUR][1000 genomes]
rs11020780	0.84[EUR][1000 genomes]
rs11020789	0.95[EUR][1000 genomes]
rs11517521	0.92[EUR][1000 genomes]
rs11528970	0.90[EUR][1000 genomes]
rs11825497	0.95[EUR][1000 genomes]
rs12222194	0.95[EUR][1000 genomes]
rs12222920	0.95[EUR][1000 genomes]
rs12224897	0.95[EUR][1000 genomes]
rs12360870	0.84[EUR][1000 genomes]
rs13447710	0.83[EUR][1000 genomes]
rs13447717	0.95[EUR][1000 genomes]
rs2005496	0.80[EUR][1000 genomes]
rs3740868	0.90[EUR][1000 genomes]
rs3819119	0.95[EUR][1000 genomes]
rs7117042	0.95[EUR][1000 genomes]
rs7126861	0.95[EUR][1000 genomes]
rs7126985	0.95[EUR][1000 genomes]
rs7947058	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
5	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
11	chr11:94166600-94216400	Weak transcription	Gastric	stomach
12	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
13	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
15	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:94169800-94199000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
18	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
20	chr11:94179200-94199000	Weak transcription	Fetal Brain Female	brain
21	chr11:94179200-94200000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:94179400-94206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:94180400-94199000	Weak transcription	Brain Germinal Matrix	brain
25	chr11:94180600-94202800	Weak transcription	Brain Anterior Caudate	brain
26	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
27	chr11:94180800-94198800	Weak transcription	Thymus	Thymus
28	chr11:94180800-94212600	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:94180800-94215800	Weak transcription	Lung	lung
30	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
31	chr11:94181800-94215800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:94183000-94205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:94183200-94222200	Weak transcription	HMEC	breast
34	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:94183600-94225800	Weak transcription	NHLF	lung
36	chr11:94183800-94196000	Weak transcription	Osteobl	bone
37	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
38	chr11:94185800-94195400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:94186600-94199800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:94188400-94195800	Strong transcription	Dnd41	blood
41	chr11:94189200-94196000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:94189600-94201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:94190400-94195800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:94190400-94195800	Strong transcription	Primary T cells from cord blood	blood
45	chr11:94190600-94199000	Weak transcription	Ovary	ovary
46	chr11:94190600-94202400	Weak transcription	Fetal Lung	lung
47	chr11:94191000-94195600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:94191800-94195800	Strong transcription	Fetal Thymus	thymus
49	chr11:94192200-94195800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:94192800-94205400	Weak transcription	HUVEC	blood vessel

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