Variant report

Variant	rs12295689
Chromosome Location	chr11:66948403-66948404
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	chr11:66947019..66949345-chr11:66957524..66959711,2	K562	blood:
2	chr11:66884756..66886465-chr11:66946415..66948664,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11227753	0.80[AFR][1000 genomes]
rs12283002	0.80[AFR][1000 genomes]
rs12286610	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 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	chr11:66905600-66950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:66907800-66953000	Weak transcription	Aorta	Aorta
3	chr11:66907800-66975000	Weak transcription	Pancreas	Pancrea
4	chr11:66918800-66968000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:66919600-66950400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:66919800-66949600	Weak transcription	Lung	lung
7	chr11:66920800-66949200	Weak transcription	Fetal Kidney	kidney
8	chr11:66926000-66950400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:66926000-66966800	Weak transcription	Brain Angular Gyrus	brain
10	chr11:66926200-66963800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:66930800-66985600	Weak transcription	Small Intestine	intestine
12	chr11:66933400-66948600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:66934400-66948800	Weak transcription	Psoas Muscle	Psoas
14	chr11:66934400-66949200	Weak transcription	Esophagus	oesophagus
15	chr11:66934400-66950600	Weak transcription	Colonic Mucosa	Colon
16	chr11:66934400-66951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:66935800-66949600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:66936400-66950400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:66936400-66956000	Weak transcription	Fetal Heart	heart
20	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
21	chr11:66936800-66948600	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:66941600-66951000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:66942400-66955000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:66942600-66950600	Weak transcription	A549	lung
25	chr11:66942600-66952800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:66942600-66982800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:66942800-66949200	Weak transcription	Brain Substantia Nigra	brain
28	chr11:66942800-66950400	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:66942800-66961000	Weak transcription	Gastric	stomach
30	chr11:66943000-66948600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:66943000-66949000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:66943000-66950400	Weak transcription	Spleen	Spleen
33	chr11:66943400-66948800	Weak transcription	Fetal Brain Female	brain
34	chr11:66944000-66961200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:66944200-66950600	Weak transcription	Fetal Brain Male	brain
36	chr11:66945000-66954400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:66945000-66956200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:66945000-66956600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr11:66945000-66956800	Strong transcription	Dnd41	blood
40	chr11:66945000-66957000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:66945200-66954200	Strong transcription	Primary T cells from cord blood	blood
42	chr11:66945200-66955000	Strong transcription	Primary B cells from cord blood	blood
43	chr11:66945800-66984800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:66946000-66949200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:66946200-66948800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:66946200-66952200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:66946400-66949200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:66946400-66955400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:66946800-66954400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:66947000-66951200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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