Variant report

Variant	rs7104415
Chromosome Location	chr11:8994967-8994968
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8985985..8989879-chr11:8990022..8995135,9	K562	blood:
2	chr11:8708369..8710243-chr11:8992642..8995400,2	K562	blood:
3	chr11:8989184..8992438-chr11:8993740..8997240,3	MCF-7	breast:
4	chr11:8994885..8996463-chr11:9001232..9004055,2	K562	blood:
5	chr11:8986395..8988303-chr11:8994889..8997626,2	K562	blood:

Variant related genes	Relation type
ENSG00000254860	Chromatin interaction
ENSG00000175348	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10769982	0.89[AMR][1000 genomes]
rs10840149	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840152	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042155	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1989143	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2195812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256067	1.00[EUR][1000 genomes]
rs2262323	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2436178	1.00[EUR][1000 genomes]
rs2568021	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568023	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568026	1.00[EUR][1000 genomes]
rs2568027	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568030	1.00[ASW][hapmap];0.80[LWK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568036	0.90[AMR][1000 genomes]
rs2568041	1.00[EUR][1000 genomes]
rs2568046	0.88[YRI][hapmap];0.88[AFR][1000 genomes]
rs2568055	1.00[EUR][1000 genomes]
rs2568058	1.00[EUR][1000 genomes]
rs2568060	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs2568063	1.00[EUR][1000 genomes]
rs2568072	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568083	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653561	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653563	0.87[ASW][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653571	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653584	0.87[ASW][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653585	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653592	0.93[AFR][1000 genomes]
rs2653595	0.85[AFR][1000 genomes]
rs2653600	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653614	1.00[EUR][1000 genomes]
rs2653615	1.00[EUR][1000 genomes]
rs2742469	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2742479	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742482	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742507	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742508	0.86[ASW][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742518	1.00[EUR][1000 genomes]
rs2742526	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742527	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742539	1.00[EUR][1000 genomes]
rs2742543	1.00[EUR][1000 genomes]
rs2742551	1.00[EUR][1000 genomes]
rs6416158	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6416159	1.00[ASW][hapmap];0.85[LWK][hapmap];0.80[MKK][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119887	0.87[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73410028	1.00[EUR][1000 genomes]
rs73410031	1.00[EUR][1000 genomes]
rs73410040	1.00[EUR][1000 genomes]
rs7395934	1.00[ASW][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396042	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396427	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7479998	1.00[EUR][1000 genomes]
rs7932678	1.00[EUR][1000 genomes]
rs7936297	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950826	0.89[AMR][1000 genomes];1.00[EUR][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	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
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7104415	C11orf17	cis	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8986800-8995000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:8986800-8996600	Weak transcription	Spleen	Spleen
3	chr11:8987000-8995000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:8987000-9007200	Weak transcription	Brain Germinal Matrix	brain
5	chr11:8987000-9007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:8987000-9010200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:8987000-9011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:8987600-9005000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:8987600-9006400	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:8987600-9010000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:8987600-9010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:8987800-8999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:8987800-9005000	Weak transcription	Brain Angular Gyrus	brain
14	chr11:8987800-9010200	Weak transcription	NHDF-Ad	bronchial
15	chr11:8987800-9012000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:8989200-8999000	Weak transcription	Fetal Intestine Small	intestine
17	chr11:8989600-8997000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:8989600-8997400	Weak transcription	Primary T cells from cord blood	blood
19	chr11:8989600-9001400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:8989600-9002400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:8989600-9003400	Weak transcription	Fetal Stomach	stomach
22	chr11:8989600-9010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:8989600-9011200	Weak transcription	Brain Anterior Caudate	brain
24	chr11:8989600-9019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:8991800-9015600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:8992400-8999200	Weak transcription	Placenta	Placenta
27	chr11:8993200-8995000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:8994000-9008600	Weak transcription	K562	blood
29	chr11:8994800-8995200	Enhancers	Primary monocytes fromperipheralblood	blood

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