Variant report

Variant	rs11224518
Chromosome Location	chr11:100800775-100800776
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	RAD21	chr11:100800659-100801502	SK-N-SH	brain:	n/a	chr11:100801095-100801114
2	CTCF	chr11:100800712-100801522	SK-N-SH	brain:	n/a	chr11:100801097-100801115 chr11:100801092-100801113
3	CTCF	chr11:100800680-100800830	GM12864	blood:	n/a	n/a
4	CTCF	chr11:100800699-100801634	A549	lung:	n/a	chr11:100801097-100801115 chr11:100801092-100801113
5	EBF1	chr11:100800677-100801159	GM12878	blood:	n/a	chr11:100800755-100800768

No.	Distal block	Cell Line	Cell type
1	chr11:100790778..100793408-chr11:100799342..100801098,2	MCF-7	breast:
2	chr11:100556941..100559649-chr11:100798656..100801476,2	MCF-7	breast:
3	chr11:100446854..100447800-chr11:100800624..100801423,2	K562	blood:
4	chr11:100446949..100447784-chr11:100800696..100801382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238388	TF binding region
ENSG00000165895	Chromatin interaction
ENSG00000248027	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1047624	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11224511	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11224517	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224519	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224520	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224528	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224529	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273212	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276190	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12281543	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12283290	0.93[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285336	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12286700	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12286931	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12290272	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12417750	0.95[EUR][1000 genomes]
rs17095808	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17095820	1.00[YRI][hapmap]
rs17646129	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17646702	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17647068	0.93[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17647243	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17648451	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17648695	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17654410	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17654633	0.90[EUR][1000 genomes]
rs17659845	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17713573	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17726649	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17726667	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17726715	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17726918	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17727251	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17727449	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17727789	0.90[EUR][1000 genomes]
rs17727843	0.90[EUR][1000 genomes]
rs1940220	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1940222	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1944435	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2226640	0.91[EUR][1000 genomes]
rs41392445	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs55952345	0.93[EUR][1000 genomes]
rs56199820	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60312663	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7924400	0.82[EUR][1000 genomes]
rs7948907	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949497	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:100773800-100809800	Weak transcription	Left Ventricle	heart
3	chr11:100774800-100812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:100784000-100808800	Weak transcription	Primary B cells from cord blood	blood
5	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:100786800-100806800	Weak transcription	Placenta	Placenta
7	chr11:100790000-100803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:100790200-100812600	Weak transcription	Stomach Mucosa	stomach
9	chr11:100790400-100806600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:100793400-100807000	Weak transcription	Liver	Liver
11	chr11:100794200-100803000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:100794200-100807000	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:100794400-100812800	Weak transcription	Fetal Stomach	stomach
14	chr11:100795600-100807400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:100797600-100811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:100798400-100801000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:100798400-100801000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:100798400-100801000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:100798600-100800800	Weak transcription	Brain Anterior Caudate	brain
20	chr11:100798600-100801000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:100798600-100801000	Enhancers	NHEK	skin
22	chr11:100798600-100807600	Weak transcription	Ovary	ovary
23	chr11:100798600-100811600	Weak transcription	Fetal Lung	lung
24	chr11:100798600-100812800	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:100798600-100826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:100798600-100828200	Weak transcription	Gastric	stomach
27	chr11:100798800-100807000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:100798800-100811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:100798800-100832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:100799000-100801000	Enhancers	HMEC	breast
31	chr11:100799000-100801400	Enhancers	NH-A	brain
32	chr11:100799200-100800800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:100799200-100801000	Enhancers	NHDF-Ad	bronchial
34	chr11:100799200-100804600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:100799200-100812800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:100799200-100812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:100799400-100801000	Enhancers	HSMM	muscle
38	chr11:100800000-100800800	Enhancers	Hela-S3	cervix
39	chr11:100800000-100801000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:100800000-100801000	Enhancers	Fetal Heart	heart
41	chr11:100800000-100801000	Enhancers	HSMMtube	muscle
42	chr11:100800000-100801400	Enhancers	A549	lung
43	chr11:100800200-100801000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:100800200-100801000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:100800200-100801000	Flanking Active TSS	GM12878-XiMat	blood
46	chr11:100800200-100846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:100800400-100800800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:100800600-100801000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:100800600-100801000	Flanking Active TSS	NHLF	lung
50	chr11:100800600-100801000	Flanking Active TSS	Osteobl	bone

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