Variant report

Variant	rs11038933
Chromosome Location	chr11:46622421-46622422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46611106..46615658-chr11:46617323..46622454,5	K562	blood:
2	chr11:46622262..46624365-chr3:161085688..161088044,2	MCF-7	breast:
3	chr11:46620981..46622673-chr11:46637101..46638685,2	K562	blood:
4	chr11:46617162..46618981-chr11:46621553..46623260,2	K562	blood:
5	chr11:46621675..46623481-chr11:46628074..46630642,2	K562	blood:

Variant related genes	Relation type
ENSG00000180423	Chromatin interaction
ENSG00000110497	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11601182	1.00[LWK][hapmap]
rs11821779	1.00[JPT][hapmap]
rs11822837	1.00[CHB][hapmap]
rs12285911	1.00[LWK][hapmap]
rs12797858	1.00[LWK][hapmap]
rs17196997	1.00[YRI][hapmap]
rs35314669	1.00[LWK][hapmap]
rs4268467	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap]
rs4400757	1.00[LWK][hapmap]
rs4423141	1.00[LWK][hapmap]
rs4995987	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46615600-46625000	Weak transcription	Gastric	stomach
2	chr11:46615600-46636800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:46615800-46637000	Weak transcription	Esophagus	oesophagus
4	chr11:46615800-46638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:46616000-46624600	Weak transcription	Lung	lung
6	chr11:46616000-46624800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:46616000-46624800	Weak transcription	Left Ventricle	heart
8	chr11:46616000-46625000	Weak transcription	Pancreas	Pancrea
9	chr11:46616000-46637000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:46616000-46638400	Weak transcription	Aorta	Aorta
11	chr11:46616200-46622600	Weak transcription	NHDF-Ad	bronchial
12	chr11:46616200-46623200	Weak transcription	Primary T cells from cord blood	blood
13	chr11:46616200-46624600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:46616200-46624600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:46616200-46624600	Weak transcription	Fetal Stomach	stomach
16	chr11:46616200-46624800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:46616200-46624800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:46616200-46624800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:46616200-46624800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:46616200-46624800	Weak transcription	Fetal Thymus	thymus
21	chr11:46616200-46624800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:46616200-46625000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:46616200-46627000	Weak transcription	Ovary	ovary
24	chr11:46616200-46633000	Weak transcription	Placenta	Placenta
25	chr11:46616200-46633400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:46616200-46633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:46616200-46633400	Weak transcription	Fetal Brain Female	brain
28	chr11:46616200-46633400	Weak transcription	NHLF	lung
29	chr11:46616200-46633600	Weak transcription	Brain Germinal Matrix	brain
30	chr11:46616200-46634800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:46616200-46637000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:46616200-46637200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:46616200-46637200	Weak transcription	HMEC	breast
34	chr11:46616200-46637400	Weak transcription	Right Ventricle	heart
35	chr11:46616200-46637400	Weak transcription	Thymus	Thymus
36	chr11:46616200-46638000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:46616200-46638000	Weak transcription	Right Atrium	heart
38	chr11:46616200-46638400	Weak transcription	Spleen	Spleen
39	chr11:46616400-46624000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:46616400-46624600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:46616400-46624800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:46616400-46624800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:46616400-46624800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:46616400-46624800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:46616400-46624800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:46616400-46624800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:46616400-46624800	Weak transcription	Fetal Kidney	kidney
48	chr11:46616400-46625000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:46616400-46625200	Weak transcription	Fetal Lung	lung
50	chr11:46616400-46626400	Weak transcription	Brain Inferior Temporal Lobe	brain

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