Variant report

Variant	rs2568028
Chromosome Location	chr11:8860688-8860689
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:8859305-8862295	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8856465..8859459-chr11:8859495..8861215,2	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2256067	1.00[AMR][1000 genomes]
rs2436178	0.87[AMR][1000 genomes]
rs2455604	0.93[LWK][hapmap]
rs2568055	1.00[AMR][1000 genomes]
rs2568058	0.87[AMR][1000 genomes]
rs2568060	1.00[AMR][1000 genomes]
rs2568063	0.87[AMR][1000 genomes]
rs2653589	0.90[LWK][hapmap]
rs2653614	0.87[AMR][1000 genomes]
rs2653615	0.87[AMR][1000 genomes]
rs2742543	0.89[AMR][1000 genomes]
rs2742551	0.87[AMR][1000 genomes]
rs7947427	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2568028	C11orf17	cis	lymphoblastoid	seeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8851000-8861400	Weak transcription	Brain Substantia Nigra	brain
2	chr11:8851800-8862400	Enhancers	Placenta	Placenta
3	chr11:8852800-8861600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:8853000-8861400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:8854400-8861000	Weak transcription	Pancreas	Pancrea
6	chr11:8854600-8861000	Weak transcription	Lung	lung
7	chr11:8854600-8861400	Weak transcription	A549	lung
8	chr11:8854800-8861000	Weak transcription	Fetal Intestine Small	intestine
9	chr11:8855400-8861000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:8855400-8861000	Weak transcription	Esophagus	oesophagus
11	chr11:8855400-8861000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:8855400-8861800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:8855600-8861200	Weak transcription	Hela-S3	cervix
14	chr11:8855800-8861200	Weak transcription	GM12878-XiMat	blood
15	chr11:8855800-8861600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:8856200-8861200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:8856400-8861400	Weak transcription	NHEK	skin
18	chr11:8856600-8861000	Weak transcription	HUVEC	blood vessel
19	chr11:8857600-8861200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:8858600-8862600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:8859200-8862400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:8859200-8862400	Enhancers	NHLF	lung
23	chr11:8859200-8862600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:8859200-8862600	Enhancers	Fetal Lung	lung
25	chr11:8859200-8862600	Enhancers	Small Intestine	intestine
26	chr11:8859400-8862400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:8859400-8862400	Enhancers	Ovary	ovary
28	chr11:8859400-8862400	Enhancers	Right Atrium	heart
29	chr11:8859400-8862400	Enhancers	Stomach Mucosa	stomach
30	chr11:8859400-8862400	Enhancers	Spleen	Spleen
31	chr11:8859400-8862400	Enhancers	HSMMtube	muscle
32	chr11:8859400-8862600	Enhancers	HMEC	breast
33	chr11:8859400-8864000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:8859600-8862000	Enhancers	Adipose Nuclei	Adipose
35	chr11:8859600-8862400	Enhancers	Fetal Stomach	stomach
36	chr11:8859600-8862400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr11:8859600-8863000	Enhancers	Fetal Muscle Leg	muscle
38	chr11:8859800-8861000	Enhancers	Fetal Heart	heart
39	chr11:8859800-8861400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:8859800-8861800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:8859800-8862200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:8859800-8862400	Enhancers	Colon Smooth Muscle	Colon
43	chr11:8859800-8862400	Enhancers	Rectal Smooth Muscle	rectum
44	chr11:8859800-8862600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:8859800-8862600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr11:8859800-8862600	Enhancers	Duodenum Mucosa	Duodenum
47	chr11:8859800-8862600	Enhancers	Fetal Kidney	kidney
48	chr11:8859800-8863200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:8859800-8863800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:8860000-8860800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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