Variant report

Variant	rs34418236
Chromosome Location	chr11:8859656-8859657
allele	C/T
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	GATA3	chr11:8859506-8860630	SK-N-SH	brain:	n/a	chr11:8859793-8859810
2	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: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10522860	0.82[ASN][1000 genomes]
rs10734638	0.82[EUR][1000 genomes]
rs10840127	0.86[ASN][1000 genomes]
rs10840129	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042070	0.86[ASN][1000 genomes]
rs11042072	0.86[ASN][1000 genomes]
rs11042099	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16906056	0.86[ASN][1000 genomes]
rs17337866	0.91[ASN][1000 genomes]
rs1811367	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2568029	0.82[EUR][1000 genomes]
rs2568035	0.83[EUR][1000 genomes]
rs2568056	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2568078	0.80[EUR][1000 genomes]
rs2653558	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2653566	0.81[EUR][1000 genomes]
rs2653591	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2653618	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2742502	0.81[EUR][1000 genomes]
rs2742549	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2742553	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34023999	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34033747	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34152382	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34275210	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34371023	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34417491	0.86[ASN][1000 genomes]
rs34581555	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34769330	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35503692	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35563381	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35580466	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35909878	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36094920	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36100955	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36180552	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850934	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3915868	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4910068	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4929915	0.82[ASN][1000 genomes]
rs7117900	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7127197	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7950491	0.91[AMR][1000 genomes];0.96[EUR][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
rs34418236	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8845800-8860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:8851000-8861400	Weak transcription	Brain Substantia Nigra	brain
4	chr11:8851800-8862400	Enhancers	Placenta	Placenta
5	chr11:8852800-8861600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:8853000-8861400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:8854400-8861000	Weak transcription	Pancreas	Pancrea
8	chr11:8854600-8860000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:8854600-8860400	Weak transcription	Gastric	stomach
10	chr11:8854600-8861000	Weak transcription	Lung	lung
11	chr11:8854600-8861400	Weak transcription	A549	lung
12	chr11:8854800-8860600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:8854800-8861000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:8855200-8859800	Weak transcription	Fetal Kidney	kidney
15	chr11:8855400-8859800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:8855400-8861000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:8855400-8861000	Weak transcription	Esophagus	oesophagus
18	chr11:8855400-8861000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:8855400-8861800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:8855600-8859800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:8855600-8859800	Weak transcription	Fetal Heart	heart
22	chr11:8855600-8860000	Weak transcription	Right Ventricle	heart
23	chr11:8855600-8861200	Weak transcription	Hela-S3	cervix
24	chr11:8855800-8859800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:8855800-8859800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:8855800-8861200	Weak transcription	GM12878-XiMat	blood
27	chr11:8855800-8861600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:8856000-8859800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:8856000-8859800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:8856000-8860000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:8856200-8859800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:8856200-8859800	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:8856200-8860000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:8856200-8860200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:8856200-8860600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:8856200-8861200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:8856400-8859800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:8856400-8859800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:8856400-8859800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:8856400-8859800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:8856400-8860000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:8856400-8860000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:8856400-8860400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:8856400-8861400	Weak transcription	NHEK	skin
45	chr11:8856600-8861000	Weak transcription	HUVEC	blood vessel
46	chr11:8857200-8860000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:8857600-8861200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:8858600-8862600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:8859000-8859800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:8859000-8859800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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