Variant report

Variant	rs11217886
Chromosome Location	chr11:120348597-120348598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120206329..120208949-chr11:120347736..120350467,2	K562	blood:
2	chr11:120330289..120332289-chr11:120347939..120350643,2	K562	blood:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10892579	0.82[EUR][1000 genomes]
rs10892580	0.83[EUR][1000 genomes]
rs10892581	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217869	0.82[EUR][1000 genomes]
rs11217871	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11217872	0.81[EUR][1000 genomes]
rs11217873	0.82[EUR][1000 genomes]
rs11217879	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217881	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217883	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217889	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217890	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11600200	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12362794	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35912781	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61898768	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67617613	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7110955	0.81[EUR][1000 genomes]
rs7120040	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7120174	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs747419	0.82[EUR][1000 genomes]
rs766894	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7943147	0.82[EUR][1000 genomes]
rs7948299	0.81[EUR][1000 genomes]
rs9625	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
3	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:120308000-120352600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:120308000-120359000	Strong transcription	Placenta	Placenta
6	chr11:120308400-120357800	Strong transcription	Adipose Nuclei	Adipose
7	chr11:120310200-120350600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:120310400-120358000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:120311200-120357200	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:120312400-120351800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:120312400-120354000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr11:120312800-120357800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:120314200-120362200	Strong transcription	Liver	Liver
14	chr11:120315200-120353000	Strong transcription	Fetal Brain Female	brain
15	chr11:120316400-120382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:120320000-120350600	Weak transcription	Hela-S3	cervix
17	chr11:120320000-120358000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:120320200-120357600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:120321000-120358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:120321200-120350800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:120323600-120348800	Weak transcription	Spleen	Spleen
22	chr11:120325600-120350600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:120329000-120358800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:120334000-120348800	Weak transcription	Small Intestine	intestine
25	chr11:120335200-120359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:120335800-120354000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:120336200-120358600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:120336600-120350800	Weak transcription	Right Atrium	heart
29	chr11:120337400-120354200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:120337600-120357200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:120338000-120348800	Weak transcription	A549	lung
32	chr11:120338600-120348800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:120339000-120348800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:120339800-120362200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:120340000-120353600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:120340800-120351400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:120341400-120348800	Weak transcription	Right Ventricle	heart
38	chr11:120341400-120355600	Weak transcription	Psoas Muscle	Psoas
39	chr11:120341600-120348600	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:120341800-120350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:120341800-120350600	Weak transcription	Lung	lung
42	chr11:120342000-120348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:120342000-120348800	Weak transcription	GM12878-XiMat	blood
44	chr11:120342200-120348600	Weak transcription	HMEC	breast
45	chr11:120342200-120350600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:120342200-120350800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:120342200-120358400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:120342800-120352400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:120342800-120353800	Strong transcription	HSMM	muscle
50	chr11:120342800-120358800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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