Variant report

Variant	rs12293270
Chromosome Location	chr11:120302627-120302628
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120208182..120211778-chr11:120301083..120304985,6	K562	blood:
2	chr11:120207726..120210092-chr11:120301083..120303053,2	K562	blood:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12270008	0.85[LWK][hapmap]
rs12285963	0.85[LWK][hapmap]
rs41478048	0.85[LWK][hapmap];0.83[MKK][hapmap]
rs41508654	0.85[LWK][hapmap]

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
2	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
4	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
6	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:120285600-120319800	Weak transcription	Gastric	stomach
8	chr11:120288400-120305800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:120288600-120309600	Weak transcription	Aorta	Aorta
10	chr11:120290000-120308200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:120292000-120315400	Weak transcription	Colonic Mucosa	Colon
14	chr11:120293000-120309000	Weak transcription	Fetal Stomach	stomach
15	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
16	chr11:120295400-120312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:120296000-120308400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:120296000-120309200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:120296000-120312400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:120296000-120315800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:120296000-120316200	Weak transcription	Esophagus	oesophagus
23	chr11:120296000-120316400	Weak transcription	Lung	lung
24	chr11:120296000-120317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:120296200-120302800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:120296200-120308400	Weak transcription	Adipose Nuclei	Adipose
27	chr11:120296200-120315400	Weak transcription	Fetal Brain Male	brain
28	chr11:120296400-120302800	Weak transcription	GM12878-XiMat	blood
29	chr11:120296400-120308400	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:120296400-120308400	Weak transcription	HepG2	liver
31	chr11:120297000-120305600	Strong transcription	Placenta	Placenta
32	chr11:120298600-120305200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:120298800-120304200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:120299600-120308200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:120299800-120302800	Weak transcription	Fetal Kidney	kidney
36	chr11:120300000-120304600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:120300600-120308400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:120300600-120312000	Strong transcription	Liver	Liver
39	chr11:120300800-120306400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:120300800-120308400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:120301200-120304600	Strong transcription	Fetal Lung	lung
42	chr11:120301400-120302800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:120301400-120303200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:120301400-120308000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:120301600-120303000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:120301800-120302800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:120302000-120304000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:120302000-120304400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:120302200-120302800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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