Variant report

Variant	rs3751117
Chromosome Location	chr11:63920052-63920053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63898040..63900955-chr11:63917513..63921535,3	K562	blood:
2	chr11:63919664..63921354-chr11:63949553..63952240,2	MCF-7	breast:
3	chr11:63802623..63804880-chr11:63918427..63921205,3	K562	blood:
4	chr11:63919174..63921572-chr11:63931530..63934413,3	K562	blood:
5	chr11:63919075..63921037-chr11:63953644..63955908,2	MCF-7	breast:
6	chr11:63914043..63916614-chr11:63918167..63922101,5	MCF-7	breast:
7	chr11:63908787..63911048-chr11:63919797..63921636,2	MCF-7	breast:
8	chr11:63753480..63755345-chr11:63919160..63920737,2	MCF-7	breast:
9	chr11:63919730..63922683-chr11:64013318..64014860,2	MCF-7	breast:
10	chr11:63916483..63918216-chr11:63918316..63920658,3	K562	blood:
11	chr11:63890559..63892609-chr11:63919127..63921688,2	MCF-7	breast:
12	chr11:63919286..63923231-chr11:63930943..63934500,5	MCF-7	breast:
13	chr11:63918153..63920465-chr11:63921554..63923972,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256824	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000256940	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11231690	1.00[CEU][hapmap]
rs11231699	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231711	0.84[AMR][1000 genomes]
rs11231721	0.80[ASN][1000 genomes]
rs11231735	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11231745	0.87[JPT][hapmap]
rs2244621	0.87[JPT][hapmap]
rs2302263	0.83[JPT][hapmap]
rs34499953	0.87[JPT][hapmap]
rs35927325	0.88[ASN][1000 genomes]
rs3751121	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3751122	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs3802932	0.80[ASN][1000 genomes]
rs4930702	0.82[JPT][hapmap]
rs953778	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
3	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
4	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
7	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
8	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
9	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
10	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
11	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
12	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
14	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63900200-63931800	Weak transcription	Lung	lung
2	chr11:63911400-63920200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:63911600-63920400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:63911600-63932600	Weak transcription	Primary T cells from cord blood	blood
5	chr11:63911800-63920200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:63914000-63921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:63914200-63920200	Weak transcription	K562	blood
8	chr11:63914400-63920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:63916000-63920200	Weak transcription	Colonic Mucosa	Colon
10	chr11:63916200-63920200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:63916200-63920200	Weak transcription	NH-A	brain
12	chr11:63916200-63920400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:63916200-63920400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:63916200-63920400	Weak transcription	A549	lung
15	chr11:63916200-63920800	Enhancers	Liver	Liver
16	chr11:63916200-63921000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:63916200-63924200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:63916200-63932000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:63916400-63920200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:63916400-63920200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:63916400-63920400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:63916400-63920400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:63916400-63921400	Enhancers	Brain Germinal Matrix	brain
24	chr11:63916400-63932000	Weak transcription	Stomach Mucosa	stomach
25	chr11:63916600-63920200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:63916600-63920200	Weak transcription	Fetal Thymus	thymus
27	chr11:63916600-63920200	Weak transcription	Ovary	ovary
28	chr11:63916600-63932200	Weak transcription	Fetal Intestine Large	intestine
29	chr11:63916800-63920400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:63916800-63920800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:63917000-63920200	Weak transcription	Brain Anterior Caudate	brain
32	chr11:63917200-63920200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:63917400-63920200	Weak transcription	Brain Angular Gyrus	brain
34	chr11:63917400-63920200	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:63917400-63920200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:63917400-63920400	Weak transcription	Brain Substantia Nigra	brain
37	chr11:63917400-63920400	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:63918200-63932200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:63918400-63920200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:63918400-63920200	Weak transcription	Spleen	Spleen
41	chr11:63918400-63920400	Weak transcription	Fetal Heart	heart
42	chr11:63918600-63920200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:63918600-63920200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:63918600-63920200	Strong transcription	Fetal Stomach	stomach
45	chr11:63918600-63920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:63918600-63920400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:63918600-63931800	Weak transcription	Gastric	stomach
48	chr11:63918800-63920200	Weak transcription	Esophagus	oesophagus
49	chr11:63918800-63920200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:63918800-63920600	Weak transcription	Fetal Brain Male	brain

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