Variant report

Variant	rs4040
Chromosome Location	chr11:59405250-59405251
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59383150..59385073-chr11:59402691..59405438,2	K562	blood:
2	chr11:59402868..59405539-chr11:59417059..59419661,2	K562	blood:
3	chr11:59402868..59406000-chr11:59417059..59419822,3	K562	blood:

Variant related genes	Relation type
ENSG00000255139	Chromatin interaction
ENSG00000110048	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17153877	1.00[YRI][hapmap]
rs17153914	0.83[AFR][1000 genomes]
rs17153928	0.83[AFR][1000 genomes]
rs17153977	0.89[AFR][1000 genomes]
rs17153987	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs17154038	1.00[AMR][1000 genomes]
rs3015969	0.85[YRI][hapmap]
rs3949113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102198	1.00[AMR][1000 genomes]
rs7103832	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7116954	1.00[AMR][1000 genomes]
rs7120176	0.86[AFR][1000 genomes]
rs7125454	0.86[AFR][1000 genomes]
rs7128845	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1797571	chr11:59383323-59424688	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1797737	chr11:59383323-59424688	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv832172	chr11:59396407-59431115	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59393600-59408200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:59395600-59409800	Weak transcription	Fetal Heart	heart
3	chr11:59395600-59434600	Weak transcription	Stomach Mucosa	stomach
4	chr11:59402000-59407400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr11:59402200-59407200	Strong transcription	Primary B cells from cord blood	blood
6	chr11:59402200-59411800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:59402200-59427000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:59402200-59432400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:59402200-59434000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:59402400-59408600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:59402400-59427800	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr11:59402400-59428200	Strong transcription	Primary T cells from cord blood	blood
13	chr11:59402600-59407200	Strong transcription	NHEK	skin
14	chr11:59402600-59408600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:59402600-59409200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:59402600-59410600	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:59402600-59410800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:59402600-59410800	Strong transcription	Liver	Liver
19	chr11:59402600-59411200	Strong transcription	Fetal Stomach	stomach
20	chr11:59402600-59411200	Strong transcription	Spleen	Spleen
21	chr11:59402600-59424200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:59402600-59426800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:59402600-59427200	Strong transcription	Primary hematopoietic stem cells	blood
24	chr11:59402600-59427400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:59402600-59427600	Strong transcription	Adipose Nuclei	Adipose
26	chr11:59402600-59427600	Strong transcription	GM12878-XiMat	blood
27	chr11:59402600-59428000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:59402600-59428000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr11:59402600-59428400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:59402600-59428400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:59402600-59428600	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:59402600-59429000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:59402600-59434000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:59402600-59434000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:59402600-59434200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr11:59402600-59434400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:59402800-59407200	Strong transcription	HSMM	muscle
38	chr11:59402800-59407200	Strong transcription	HSMMtube	muscle
39	chr11:59402800-59408600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:59402800-59410600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:59402800-59410800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:59402800-59411200	Strong transcription	Fetal Intestine Small	intestine
43	chr11:59402800-59411200	Strong transcription	Lung	lung
44	chr11:59402800-59411400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:59402800-59413200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:59402800-59426600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:59402800-59427000	Strong transcription	Ovary	ovary
48	chr11:59402800-59427200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:59402800-59427200	Strong transcription	HUVEC	blood vessel
50	chr11:59402800-59428000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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