Variant report

Variant	rs34417491
Chromosome Location	chr11:8828017-8828018
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	chr11:8703535..8705747-chr11:8826684..8828285,2	MCF-7	breast:
2	chr11:8827149..8829298-chr11:8831731..8833459,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10522860	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10840127	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840129	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042070	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11042072	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16906056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17337866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2653591	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34023999	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34033747	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34418236	0.86[ASN][1000 genomes]
rs35503692	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36094920	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36180552	0.86[ASN][1000 genomes]
rs3850934	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3915868	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4929915	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7127197	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34417491	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8809000-8830200	Weak transcription	Fetal Brain Male	brain
2	chr11:8809200-8829200	Weak transcription	Fetal Kidney	kidney
3	chr11:8811800-8828600	Weak transcription	Hela-S3	cervix
4	chr11:8811800-8828800	Weak transcription	Aorta	Aorta
5	chr11:8811800-8830400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:8811800-8830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:8814200-8828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:8816400-8831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:8816600-8828400	Weak transcription	NHDF-Ad	bronchial
10	chr11:8816600-8828800	Weak transcription	Brain Substantia Nigra	brain
11	chr11:8816600-8830000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:8816600-8830600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:8816800-8828600	Weak transcription	Small Intestine	intestine
14	chr11:8817000-8828600	Weak transcription	Fetal Intestine Large	intestine
15	chr11:8817200-8828600	Weak transcription	Fetal Intestine Small	intestine
16	chr11:8817400-8828200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:8819800-8828600	Weak transcription	Osteobl	bone
18	chr11:8819800-8829800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:8820000-8828200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:8821600-8830200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr11:8822200-8828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:8822400-8828400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:8822600-8828200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:8823600-8828600	Enhancers	Stomach Mucosa	stomach
25	chr11:8824200-8830400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:8824600-8828600	Weak transcription	NH-A	brain
27	chr11:8825200-8828800	Enhancers	Brain Hippocampus Middle	brain
28	chr11:8825200-8829400	Enhancers	Right Ventricle	heart
29	chr11:8825400-8829400	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:8825400-8829400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:8825400-8830400	Enhancers	Left Ventricle	heart
32	chr11:8825600-8828600	Genic enhancers	Fetal Stomach	stomach
33	chr11:8825600-8828600	Enhancers	Spleen	Spleen
34	chr11:8825600-8829600	Enhancers	Gastric	stomach
35	chr11:8826000-8828200	Weak transcription	NHEK	skin
36	chr11:8826400-8828600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:8826400-8828600	Enhancers	Ovary	ovary
38	chr11:8826400-8829800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:8826400-8830600	Enhancers	Brain Angular Gyrus	brain
40	chr11:8826600-8828200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:8826600-8828400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:8826600-8828400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:8826600-8828400	Enhancers	Colonic Mucosa	Colon
44	chr11:8826600-8828600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr11:8826600-8828600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:8826600-8828800	Enhancers	Brain Anterior Caudate	brain
47	chr11:8826600-8828800	Enhancers	Duodenum Mucosa	Duodenum
48	chr11:8826600-8828800	Enhancers	Right Atrium	heart
49	chr11:8826600-8830200	Enhancers	Pancreas	Pancrea
50	chr11:8827000-8828800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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