Variant report

Variant	rs17123906
Chromosome Location	chr11:120297322-120297323
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17123842	1.00[AMR][1000 genomes]
rs17123847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123921	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123960	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7943018	1.00[AMR][1000 genomes]
rs7944855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	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
6	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
3	chr11:120272200-120299000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
5	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
7	chr11:120275600-120302400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:120275600-120302600	Weak transcription	K562	blood
9	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:120275800-120300200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
12	chr11:120276600-120302200	Weak transcription	Fetal Heart	heart
13	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:120280400-120299600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:120284800-120298800	Weak transcription	NH-A	brain
16	chr11:120285000-120302000	Weak transcription	HSMMtube	muscle
17	chr11:120285000-120302200	Weak transcription	Hela-S3	cervix
18	chr11:120285600-120319800	Weak transcription	Gastric	stomach
19	chr11:120288400-120305800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:120288600-120309600	Weak transcription	Aorta	Aorta
21	chr11:120289200-120302400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:120290000-120308200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:120290800-120302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:120292000-120315400	Weak transcription	Colonic Mucosa	Colon
27	chr11:120293000-120309000	Weak transcription	Fetal Stomach	stomach
28	chr11:120293200-120298600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:120293200-120298800	Weak transcription	Fetal Kidney	kidney
30	chr11:120293200-120302600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
32	chr11:120295400-120312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:120295800-120298600	Weak transcription	Fetal Lung	lung
35	chr11:120295800-120298800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:120295800-120300000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:120295800-120302200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:120296000-120297400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:120296000-120297600	Weak transcription	Fetal Intestine Small	intestine
40	chr11:120296000-120297800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:120296000-120298600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:120296000-120298600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:120296000-120298600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:120296000-120298800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:120296000-120298800	Weak transcription	Fetal Intestine Large	intestine
46	chr11:120296000-120299400	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:120296000-120299600	Weak transcription	NHDF-Ad	bronchial
48	chr11:120296000-120299600	Weak transcription	NHEK	skin
49	chr11:120296000-120301400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:120296000-120301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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