Variant report

Variant	rs73478647
Chromosome Location	chr11:57318006-57318007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
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]
rs73478629	1.00[AFR][1000 genomes]
rs73478635	1.00[AFR][1000 genomes]
rs73478639	1.00[AFR][1000 genomes]
rs73478654	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57298800-57319200	Weak transcription	Small Intestine	intestine
2	chr11:57299200-57333000	Weak transcription	Right Atrium	heart
3	chr11:57307200-57333600	Weak transcription	HMEC	breast
4	chr11:57309200-57333400	Weak transcription	Psoas Muscle	Psoas
5	chr11:57310800-57319200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:57311400-57319800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:57311400-57320400	Weak transcription	Stomach Mucosa	stomach
8	chr11:57311600-57319400	Weak transcription	Right Ventricle	heart
9	chr11:57312200-57319600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:57313000-57326800	Strong transcription	Thymus	Thymus
11	chr11:57313200-57327600	Strong transcription	Fetal Brain Female	brain
12	chr11:57313200-57330000	Strong transcription	Dnd41	blood
13	chr11:57313400-57327800	Strong transcription	Brain Germinal Matrix	brain
14	chr11:57313400-57328000	Strong transcription	Fetal Stomach	stomach
15	chr11:57313600-57323000	Strong transcription	Liver	Liver
16	chr11:57313600-57327800	Strong transcription	Fetal Thymus	thymus
17	chr11:57313600-57328600	Strong transcription	Lung	lung
18	chr11:57314000-57326600	Strong transcription	Brain Anterior Caudate	brain
19	chr11:57314000-57328000	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:57314000-57328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:57314000-57328600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:57314000-57330200	Strong transcription	Fetal Intestine Small	intestine
23	chr11:57314000-57330400	Strong transcription	Primary T cells from cord blood	blood
24	chr11:57314200-57321400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:57314200-57323800	Strong transcription	Brain Hippocampus Middle	brain
26	chr11:57314200-57326400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:57314200-57329800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:57314400-57326600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:57314600-57328000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:57314800-57327200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:57314800-57330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:57315000-57319000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:57315000-57328000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:57315000-57330000	Weak transcription	NHEK	skin
35	chr11:57315200-57319000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:57315200-57319400	Weak transcription	HepG2	liver
37	chr11:57315200-57323400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:57315200-57328000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:57315200-57328000	Strong transcription	Fetal Intestine Large	intestine
40	chr11:57315200-57329600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:57315200-57329600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:57315200-57330600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:57315400-57319400	Weak transcription	NHDF-Ad	bronchial
44	chr11:57315400-57319800	Weak transcription	K562	blood
45	chr11:57315400-57329000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:57315600-57319800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:57315600-57330600	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:57315800-57322800	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:57315800-57327600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:57315800-57327800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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