Variant report

Variant	rs60890473
Chromosome Location	chr11:46460088-46460089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61493022	1.00[AFR][1000 genomes]
rs73449978	1.00[AFR][1000 genomes]
rs73454020	1.00[AFR][1000 genomes]
rs73454028	1.00[AFR][1000 genomes]
rs73466042	1.00[AFR][1000 genomes]
rs73466080	1.00[AFR][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	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541029	chr11:46442658-46460232	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 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	chr11:46417800-46463400	Weak transcription	Fetal Brain Male	brain
2	chr11:46426800-46468800	Weak transcription	Psoas Muscle	Psoas
3	chr11:46433600-46466400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:46436600-46466400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:46438000-46461400	Strong transcription	Primary T cells from cord blood	blood
6	chr11:46440400-46466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:46447800-46460600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:46451400-46467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:46455200-46464800	Weak transcription	NHDF-Ad	bronchial
10	chr11:46455200-46472200	Weak transcription	Ovary	ovary
11	chr11:46455200-46488800	Weak transcription	Hela-S3	cervix
12	chr11:46455400-46463400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:46455400-46467400	Weak transcription	Stomach Mucosa	stomach
14	chr11:46455400-46492200	Weak transcription	A549	lung
15	chr11:46456400-46463600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:46456400-46463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:46456400-46466800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:46456400-46467200	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:46456400-46467200	Weak transcription	HMEC	breast
20	chr11:46456400-46468200	Weak transcription	Fetal Kidney	kidney
21	chr11:46456600-46463000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:46456600-46463000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:46456600-46463000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:46456600-46463200	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:46456600-46463200	Weak transcription	NH-A	brain
26	chr11:46456600-46463400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:46456600-46463800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:46456600-46464000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:46456600-46464000	Weak transcription	HSMM	muscle
30	chr11:46456600-46464000	Weak transcription	HSMMtube	muscle
31	chr11:46456600-46469600	Weak transcription	Fetal Brain Female	brain
32	chr11:46456600-46493600	Weak transcription	Colonic Mucosa	Colon
33	chr11:46456800-46462400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:46456800-46463000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:46456800-46463000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:46456800-46463000	Weak transcription	NHEK	skin
37	chr11:46456800-46463200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:46456800-46463200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:46456800-46463200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:46456800-46463800	Weak transcription	Osteobl	bone
41	chr11:46456800-46465200	Weak transcription	Brain Anterior Caudate	brain
42	chr11:46456800-46465800	Weak transcription	Esophagus	oesophagus
43	chr11:46456800-46468200	Weak transcription	NHLF	lung
44	chr11:46456800-46494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:46457000-46460400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr11:46457000-46460400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:46457000-46463200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:46457200-46460200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr11:46457200-46460200	Enhancers	HUES48 Cell Line	embryonic stem cell

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