Variant report

Variant	rs12786556
Chromosome Location	chr11:18297372-18297373
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	chr11:18290470..18292200-chr11:18295403..18297523,2	K562	blood:
2	chr11:18290700..18293627-chr11:18295219..18297523,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1046628	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11024599	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12291480	0.82[EUR][1000 genomes]
rs1869783	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2049129	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4267051	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18283600-18301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:18285200-18303200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:18285400-18300600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:18285600-18308400	Weak transcription	Gastric	stomach
5	chr11:18285800-18298800	Weak transcription	HSMMtube	muscle
6	chr11:18287400-18303000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:18287600-18298600	Weak transcription	Liver	Liver
8	chr11:18287600-18299200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:18287600-18303000	Weak transcription	Spleen	Spleen
10	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
11	chr11:18287800-18298800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:18287800-18300800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:18287800-18301000	Weak transcription	HSMM	muscle
14	chr11:18289600-18299200	Weak transcription	HMEC	breast
15	chr11:18290000-18298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:18290000-18299000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:18290000-18300200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:18290000-18300200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:18290000-18300600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:18290000-18303200	Weak transcription	NHEK	skin
21	chr11:18290000-18303400	Weak transcription	Small Intestine	intestine
22	chr11:18290200-18299600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:18290200-18300000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:18290200-18300200	Weak transcription	Adipose Nuclei	Adipose
25	chr11:18290200-18300800	Weak transcription	Hela-S3	cervix
26	chr11:18290200-18301200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:18290800-18298000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:18291400-18303200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:18291600-18298600	Weak transcription	GM12878-XiMat	blood
30	chr11:18291600-18301000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:18291800-18303200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:18291800-18307800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:18291800-18314400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:18292000-18300600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:18292000-18303200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:18292000-18303600	Weak transcription	Brain Germinal Matrix	brain
37	chr11:18292000-18308400	Weak transcription	Right Ventricle	heart
38	chr11:18292000-18314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:18292400-18303200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:18292400-18303200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:18292600-18300000	Weak transcription	Left Ventricle	heart
42	chr11:18292600-18300600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:18293200-18300800	Weak transcription	HepG2	liver
44	chr11:18293600-18298800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:18293800-18303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:18293800-18304200	Weak transcription	Brain Substantia Nigra	brain
47	chr11:18293800-18306200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:18294000-18299000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:18294000-18301000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:18294200-18303000	Weak transcription	Lung	lung

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