Variant report

Variant	rs17123960
Chromosome Location	chr11:120346319-120346320
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	chr11:120338298..120341177-chr11:120344067..120346441,2	K562	blood:
2	chr11:120340205..120342933-chr11:120344319..120346429,2	K562	blood:

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

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

rs_ID	r²[population]
rs17123842	1.00[AMR][1000 genomes]
rs17123847	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123906	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123921	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7943018	1.00[AMR][1000 genomes]
rs7944855	0.89[AFR][1000 genomes];1.00[AMR][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	chr11:120328400-120347800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:120329000-120358800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:120333200-120346600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:120333800-120347800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:120334000-120348000	Weak transcription	Aorta	Aorta
28	chr11:120334000-120348800	Weak transcription	Small Intestine	intestine
29	chr11:120335200-120359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:120335800-120354000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:120336200-120358600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:120336600-120350800	Weak transcription	Right Atrium	heart
33	chr11:120337400-120354200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:120337600-120357200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:120337800-120347800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:120338000-120348800	Weak transcription	A549	lung
37	chr11:120338600-120348800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:120338800-120348200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:120339000-120348800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:120339800-120362200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:120340000-120353600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:120340800-120351400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:120341000-120348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:120341400-120348200	Weak transcription	Gastric	stomach
45	chr11:120341400-120348400	Weak transcription	Colonic Mucosa	Colon
46	chr11:120341400-120348800	Weak transcription	Right Ventricle	heart
47	chr11:120341400-120355600	Weak transcription	Psoas Muscle	Psoas
48	chr11:120341600-120346800	Weak transcription	NHLF	lung
49	chr11:120341600-120348600	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:120341800-120350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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