Variant report

Variant	rs11871523
Chromosome Location	chr17:66774339-66774340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66773289..66774867-chr17:66781256..66783342,2	K562	blood:
2	chr17:66773647..66776231-chr17:67231747..67233386,2	MCF-7	breast:
3	chr17:66773644..66774375-chr17:67054064..67055022,2	K562	blood:
4	chr17:66772997..66774498-chr17:67231272..67232303,7	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11867173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11867232	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11869086	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16967199	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16967205	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16967208	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16973309	0.82[CHB][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs57197545	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6501742	0.90[EUR][1000 genomes]
rs6501759	0.81[EUR][1000 genomes]
rs68139244	0.90[EUR][1000 genomes]
rs72851039	0.84[EUR][1000 genomes]
rs8069179	0.86[EUR][1000 genomes]
rs8078115	0.85[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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66768600-66778800	Weak transcription	HSMMtube	muscle
2	chr17:66768600-66789200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr17:66768800-66774800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr17:66769000-66774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:66770600-66774400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:66770600-66774800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:66770600-66775000	Enhancers	NHDF-Ad	bronchial
8	chr17:66770600-66776400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:66770800-66774400	Weak transcription	Right Atrium	heart
10	chr17:66771000-66774800	Enhancers	NHLF	lung
11	chr17:66771200-66774400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:66771200-66774400	Weak transcription	Gastric	stomach
13	chr17:66771200-66774400	Weak transcription	Spleen	Spleen
14	chr17:66771200-66774600	Weak transcription	Placenta	Placenta
15	chr17:66771200-66774800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr17:66771200-66775200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr17:66772600-66774800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr17:66772600-66777000	Enhancers	Fetal Muscle Leg	muscle
19	chr17:66773000-66775000	Enhancers	HUVEC	blood vessel
20	chr17:66773200-66780000	Weak transcription	Ovary	ovary
21	chr17:66773400-66774600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:66773400-66774800	Enhancers	Brain Angular Gyrus	brain
23	chr17:66773400-66774800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr17:66773400-66774800	Enhancers	Fetal Stomach	stomach
25	chr17:66773400-66775000	Enhancers	Fetal Lung	lung
26	chr17:66773400-66775200	Enhancers	Brain Substantia Nigra	brain
27	chr17:66773600-66774800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr17:66773800-66774400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:66773800-66774400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr17:66773800-66774400	Enhancers	Hela-S3	cervix
31	chr17:66773800-66774600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:66773800-66774600	Active TSS	Duodenum Mucosa	Duodenum
33	chr17:66773800-66774600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr17:66773800-66774800	Flanking Active TSS	Liver	Liver
35	chr17:66773800-66775000	Flanking Active TSS	HepG2	liver
36	chr17:66773800-66775800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:66774000-66774400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr17:66774000-66774400	Flanking Active TSS	Stomach Mucosa	stomach
39	chr17:66774000-66774600	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr17:66774000-66774600	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr17:66774000-66774800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:66774000-66774800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr17:66774000-66776200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:66774200-66774400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:66774200-66774400	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr17:66774200-66774400	Enhancers	Osteobl	bone
47	chr17:66774200-66774600	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr17:66774200-66774600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr17:66774200-66774800	Enhancers	Colonic Mucosa	Colon
50	chr17:66774200-66774800	Enhancers	Psoas Muscle	Psoas

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