Variant report

Variant	rs73294950
Chromosome Location	chr17:37567627-37567628
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37560896..37563605-chr17:37565302..37568802,4	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16968748	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17397153	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17634758	1.00[EUR][1000 genomes]
rs55703686	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55844295	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57418114	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57489670	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58225361	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58467767	1.00[EUR][1000 genomes]
rs58850789	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58905757	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59329213	1.00[EUR][1000 genomes]
rs59743097	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60152394	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60333790	1.00[EUR][1000 genomes]
rs60506770	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61067673	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61749873	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7226073	1.00[EUR][1000 genomes]
rs73291305	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73291310	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73294997	1.00[EUR][1000 genomes]
rs73298796	1.00[EUR][1000 genomes]
rs73300732	1.00[EUR][1000 genomes]
rs73302552	1.00[EUR][1000 genomes]
rs73302557	1.00[EUR][1000 genomes]
rs73302588	1.00[EUR][1000 genomes]
rs73302601	1.00[EUR][1000 genomes]
rs73304305	0.83[EUR][1000 genomes]
rs73308815	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73983271	0.81[EUR][1000 genomes]
rs73985210	1.00[EUR][1000 genomes]
rs9972899	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37558400-37583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:37559000-37571000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:37559000-37571200	Weak transcription	Right Atrium	heart
4	chr17:37559000-37606600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:37559200-37571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr17:37560800-37567800	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr17:37560800-37605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:37560800-37605400	Strong transcription	Fetal Thymus	thymus
9	chr17:37560800-37605600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:37561000-37578400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:37561000-37585200	Strong transcription	Brain Germinal Matrix	brain
12	chr17:37561000-37604800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr17:37561000-37604800	Strong transcription	Placenta	Placenta
14	chr17:37561000-37605200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:37561000-37605400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:37561200-37567800	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:37561200-37568200	Strong transcription	Brain Hippocampus Middle	brain
18	chr17:37561200-37568200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr17:37561200-37568200	Strong transcription	Fetal Brain Female	brain
20	chr17:37561200-37576600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr17:37561200-37578400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:37561200-37578400	Strong transcription	Fetal Muscle Leg	muscle
23	chr17:37561200-37604400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:37561200-37604600	Strong transcription	Liver	Liver
25	chr17:37561200-37605000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:37561200-37605200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:37561400-37588200	Strong transcription	HepG2	liver
28	chr17:37561400-37595400	Strong transcription	Thymus	Thymus
29	chr17:37561400-37604800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr17:37561400-37604800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr17:37561400-37605000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr17:37561600-37604600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr17:37561600-37605600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr17:37561800-37577000	Strong transcription	Dnd41	blood
35	chr17:37561800-37587600	Strong transcription	Primary T cells from cord blood	blood
36	chr17:37561800-37604400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr17:37562000-37568000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:37562000-37568200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr17:37562000-37570200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr17:37562000-37604400	Strong transcription	Adipose Nuclei	Adipose
41	chr17:37562000-37604600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr17:37562000-37604600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr17:37562200-37576200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:37562200-37604200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:37562200-37604400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:37562200-37604600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr17:37562400-37568200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:37562400-37568200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:37562400-37576400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr17:37562400-37604200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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