Variant report

Variant	rs73478629
Chromosome Location	chr11:57305441-57305442
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs36112164	1.00[AFR][1000 genomes]
rs58330345	1.00[AFR][1000 genomes]
rs58516757	1.00[AFR][1000 genomes]
rs61546978	1.00[AFR][1000 genomes]
rs73478616	1.00[AFR][1000 genomes]
rs73478628	1.00[AFR][1000 genomes]
rs73478635	1.00[AFR][1000 genomes]
rs73478639	1.00[AFR][1000 genomes]
rs73478647	1.00[AFR][1000 genomes]
rs73478654	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak 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 miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57298800-57319200	Weak transcription	Small Intestine	intestine
2	chr11:57299000-57305800	Weak transcription	Lung	lung
3	chr11:57299000-57310200	Weak transcription	Right Ventricle	heart
4	chr11:57299000-57314000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:57299000-57317000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:57299000-57317200	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:57299000-57317400	Weak transcription	Fetal Brain Male	brain
8	chr11:57299200-57305600	Weak transcription	Fetal Brain Female	brain
9	chr11:57299200-57307000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:57299200-57307000	Weak transcription	Thymus	Thymus
11	chr11:57299200-57313600	Weak transcription	Fetal Thymus	thymus
12	chr11:57299200-57314200	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:57299200-57314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:57299200-57316200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:57299200-57317200	Weak transcription	Brain Angular Gyrus	brain
16	chr11:57299200-57333000	Weak transcription	Right Atrium	heart
17	chr11:57299400-57306200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:57299400-57313400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:57299400-57313600	Weak transcription	Liver	Liver
20	chr11:57299400-57314000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:57299400-57314000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:57299400-57314000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:57299400-57314000	Weak transcription	GM12878-XiMat	blood
24	chr11:57299400-57314200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:57299400-57317200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:57299600-57306800	Weak transcription	NHEK	skin
27	chr11:57299800-57305800	Weak transcription	Primary T cells from cord blood	blood
28	chr11:57299800-57306800	Weak transcription	Dnd41	blood
29	chr11:57300000-57310600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:57300000-57313400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:57300200-57306400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:57304200-57306000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:57304400-57305600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr11:57304400-57306000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:57304400-57306400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:57304600-57306000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:57304600-57306400	Enhancers	Psoas Muscle	Psoas
38	chr11:57304600-57306800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:57304600-57306800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:57304600-57307000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:57304800-57305800	Weak transcription	Spleen	Spleen
42	chr11:57304800-57314800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:57305000-57310000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:57305000-57310200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:57305200-57305800	Active TSS	Fetal Muscle Leg	muscle
46	chr11:57305200-57305800	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr11:57305200-57306400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:57305200-57306400	Strong transcription	Brain Germinal Matrix	brain
49	chr11:57305200-57310200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:57305400-57306200	Active TSS	Skeletal Muscle Male	skeletal muscle

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