Variant report

Variant	rs608452
Chromosome Location	chr11:94223855-94223856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94213347..94215361-chr11:94222222..94224695,2	K562	blood:
2	chr11:94219714..94224180-chr11:94224527..94226991,4	MCF-7	breast:
3	chr11:94217826..94221118-chr11:94222264..94225071,4	K562	blood:
4	chr11:94223520..94226395-chr11:94275795..94278274,2	K562	blood:
5	chr11:94222232..94224873-chr11:94225304..94228914,3	K562	blood:
6	chr11:94219618..94222085-chr11:94222930..94224543,2	K562	blood:

Variant related genes	Relation type
ENSG00000168876	Chromatin interaction
ENSG00000196371	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000134627	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12293091	1.00[EUR][1000 genomes]
rs1792627	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4301753	1.00[AMR][1000 genomes]
rs505417	0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511184	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs560190	0.82[YRI][hapmap]
rs585441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs646053	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6483328	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6483330	1.00[AMR][1000 genomes]
rs6483333	0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs687688	1.00[EUR][1000 genomes]
rs7101762	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120020	1.00[AMR][1000 genomes]
rs73523954	1.00[EUR][1000 genomes]
rs7952021	1.00[YRI][hapmap]

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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
3	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
5	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
6	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
8	chr11:94183600-94225800	Weak transcription	NHLF	lung
9	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
10	chr11:94194600-94225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:94194600-94225000	Weak transcription	Fetal Brain Male	brain
12	chr11:94197400-94224600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:94197600-94225600	Weak transcription	Fetal Heart	heart
14	chr11:94198400-94224400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:94203000-94225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:94205000-94224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:94205800-94224000	Strong transcription	Liver	Liver
18	chr11:94206600-94225800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:94206600-94226000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:94206800-94226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:94207400-94224000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:94208000-94224000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:94208000-94224600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:94208000-94225600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:94208600-94224000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:94210200-94226200	Weak transcription	Aorta	Aorta
27	chr11:94211200-94224000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:94211200-94226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:94213000-94224000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:94213000-94224000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:94213000-94224000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:94213400-94224000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:94213400-94224000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:94213400-94224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:94213400-94224000	Strong transcription	Adipose Nuclei	Adipose
36	chr11:94213400-94224000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr11:94213400-94224600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:94213600-94224000	Strong transcription	Fetal Thymus	thymus
39	chr11:94213800-94224000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr11:94214200-94225200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:94214200-94226000	Weak transcription	HSMMtube	muscle
42	chr11:94214600-94224000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:94216000-94225800	Weak transcription	Osteobl	bone
44	chr11:94216200-94224000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr11:94216800-94226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:94217000-94225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:94217000-94226400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:94217000-94226400	Weak transcription	Gastric	stomach
49	chr11:94217000-94226600	Weak transcription	Spleen	Spleen
50	chr11:94217400-94224000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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