Variant report

Variant	rs11235641
Chromosome Location	chr11:72755766-72755767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10898884	0.89[GIH][hapmap]
rs10898887	0.89[GIH][hapmap]
rs10898893	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11235639	0.93[CEU][hapmap];0.97[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs11235654	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12418930	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2003368	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4515995	0.86[EUR][1000 genomes]
rs724673	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7926133	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[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	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11235641	KRTAP5-11	cis	cerebellum	SCAN
rs11235641	CCND1	cis	cerebellum	SCAN
rs11235641	DNAJB13	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72724400-72761000	Weak transcription	HSMM	muscle
2	chr11:72739200-72759200	Weak transcription	Aorta	Aorta
3	chr11:72739400-72765800	Weak transcription	Spleen	Spleen
4	chr11:72739600-72757800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:72739600-72759200	Weak transcription	Osteobl	bone
6	chr11:72740000-72757400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:72740000-72758400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:72740000-72758800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:72740000-72759200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:72740000-72771800	Weak transcription	Fetal Stomach	stomach
11	chr11:72740800-72758400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:72741400-72765000	Weak transcription	Fetal Heart	heart
13	chr11:72742000-72757800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:72743800-72758800	Weak transcription	HUVEC	blood vessel
15	chr11:72744200-72759200	Weak transcription	Pancreas	Pancrea
16	chr11:72744600-72758600	Weak transcription	Fetal Intestine Small	intestine
17	chr11:72745600-72761000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:72746200-72759200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:72746400-72759200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:72746600-72758400	Weak transcription	Primary T cells from cord blood	blood
21	chr11:72746600-72758400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:72746600-72758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:72746600-72759200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr11:72746600-72759400	Weak transcription	Left Ventricle	heart
25	chr11:72746600-72824600	Weak transcription	Thymus	Thymus
26	chr11:72746800-72759200	Weak transcription	Fetal Thymus	thymus
27	chr11:72747400-72758400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:72747400-72758600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:72747600-72759200	Weak transcription	Dnd41	blood
30	chr11:72747800-72758800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:72749000-72758400	Weak transcription	Brain Anterior Caudate	brain
32	chr11:72750400-72758600	Weak transcription	HepG2	liver
33	chr11:72750600-72758200	Weak transcription	Liver	Liver
34	chr11:72750600-72758400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:72750600-72759200	Weak transcription	Fetal Intestine Large	intestine
36	chr11:72750600-72765800	Weak transcription	Ovary	ovary
37	chr11:72750800-72757600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:72750800-72759000	Weak transcription	Placenta	Placenta
39	chr11:72751400-72757800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:72751400-72759200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:72753000-72757800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:72753000-72758400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:72753400-72756000	ZNF genes & repeats	GM12878-XiMat	blood
44	chr11:72753600-72758600	Weak transcription	Fetal Lung	lung
45	chr11:72753800-72757800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:72754200-72757800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:72755000-72758400	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:72755200-72756400	Enhancers	Primary B cells from peripheral blood	blood
49	chr11:72755400-72758800	Weak transcription	Brain Angular Gyrus	brain
50	chr11:72755600-72757000	Weak transcription	Primary B cells from cord blood	blood

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