Variant report

Variant	rs11819955
Chromosome Location	chr11:47539208-47539209
allele	A/G/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	FOXA2	chr11:47539091-47539316	HepG2	liver:	n/a	n/a
2	CEBPD	chr11:47539091-47539327	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:47539121-47539357	HepG2	liver:	n/a	chr11:47539260-47539271
4	CEBPB	chr11:47539084-47539445	HepG2	liver:	n/a	chr11:47539260-47539271
5	CEBPB	chr11:47539142-47539431	HepG2	liver:	n/a	chr11:47539260-47539271

No.	Distal block	Cell Line	Cell type
1	chr11:47535507..47539459-chr11:47585714..47589149,4	MCF-7	breast:
2	chr11:47538256..47540735-chr11:47545712..47549245,3	K562	blood:
3	chr11:47539127..47541953-chr11:47544239..47547576,3	MCF-7	breast:
4	chr11:47537508..47540413-chr11:47573164..47576003,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270072	TF binding region
ENSG00000213619	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1044269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10742805	0.93[JPT][hapmap]
rs10742806	0.94[JPT][hapmap]
rs10742816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10769255	0.86[CEU][hapmap]
rs11039278	0.82[ASN][1000 genomes]
rs11820650	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11821273	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11821860	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11821917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes]
rs11822402	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11823490	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11824864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes]
rs11824971	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11824990	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11828339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs12419342	0.94[JPT][hapmap]
rs1474056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17198158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17790804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17791016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs2138767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2242511	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs3740684	0.87[JPT][hapmap]
rs3781628	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3824867	0.93[JPT][hapmap]
rs3847503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4147730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4237544	0.93[JPT][hapmap]
rs4282946	0.93[JPT][hapmap]
rs4384349	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4752783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4752786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4752791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs4752829	0.86[JPT][hapmap]
rs4752837	0.94[JPT][hapmap]
rs4752839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4752843	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59631865	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60882887	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60929305	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61000762	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7105122	0.93[JPT][hapmap]
rs7105907	0.94[JPT][hapmap]
rs7111873	0.93[JPT][hapmap]
rs7115371	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7120737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs7126210	0.93[JPT][hapmap]
rs753812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7931089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7939069	0.90[YRI][hapmap]
rs7948705	0.94[JPT][hapmap]
rs7952204	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap]
rs9666924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47523000-47545600	Weak transcription	Dnd41	blood
2	chr11:47524800-47549600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:47528400-47544800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr11:47528800-47541000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:47530200-47543000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr11:47531200-47540400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:47531600-47542000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:47532000-47539800	Weak transcription	Fetal Intestine Large	intestine
9	chr11:47532400-47540600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr11:47532600-47539600	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:47533400-47540800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:47533800-47539800	Weak transcription	Fetal Stomach	stomach
13	chr11:47534400-47539800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:47534400-47541400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:47535000-47540600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr11:47535000-47544600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:47535600-47539800	Enhancers	Primary T cells from cord blood	blood
18	chr11:47535600-47540000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr11:47535600-47540600	Enhancers	Brain Hippocampus Middle	brain
20	chr11:47535600-47540800	Enhancers	Liver	Liver
21	chr11:47535600-47541200	Enhancers	Lung	lung
22	chr11:47535600-47545200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:47535800-47540800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:47535800-47541000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr11:47535800-47541000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:47536000-47540200	Enhancers	Fetal Brain Male	brain
27	chr11:47536000-47542000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:47536200-47541600	Enhancers	Left Ventricle	heart
29	chr11:47536400-47539400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:47536400-47539400	Enhancers	Placenta	Placenta
31	chr11:47536400-47539800	Enhancers	Colon Smooth Muscle	Colon
32	chr11:47536800-47539800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:47536800-47542400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:47537000-47539400	Weak transcription	Thymus	Thymus
35	chr11:47537000-47539800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:47537000-47540200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:47537000-47540200	Weak transcription	Aorta	Aorta
38	chr11:47537000-47540200	Weak transcription	Colonic Mucosa	Colon
39	chr11:47537000-47540600	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:47537000-47541000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:47537000-47541000	Enhancers	Adipose Nuclei	Adipose
42	chr11:47537000-47545000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:47537200-47539400	Weak transcription	Spleen	Spleen
44	chr11:47537200-47539600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:47537200-47539600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:47537200-47539600	Weak transcription	Fetal Lung	lung
47	chr11:47537200-47539600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:47537200-47539800	Weak transcription	Brain Angular Gyrus	brain
49	chr11:47537200-47540000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:47537200-47540200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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