Variant report

Variant	rs73137678
Chromosome Location	chr5:81011597-81011598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:81011299..81014307-chr5:81021484..81024524,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10057992	0.85[ASN][1000 genomes]
rs10078216	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213685	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942283	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405913	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539361	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs373479	0.82[AFR][1000 genomes]
rs59422848	0.85[ASN][1000 genomes]
rs73137649	0.88[AFR][1000 genomes]
rs73137683	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293279	0.93[EUR][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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
2	chr5:80984000-81011600	Weak transcription	Lung	lung
3	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
4	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
6	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
9	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:80997200-81013600	Weak transcription	Primary B cells from cord blood	blood
11	chr5:80997200-81013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:80999400-81013000	Weak transcription	Ovary	ovary
14	chr5:81000000-81014200	Weak transcription	Right Ventricle	heart
15	chr5:81000000-81014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
17	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:81000600-81013000	Weak transcription	Thymus	Thymus
19	chr5:81001200-81014200	Weak transcription	Brain Anterior Caudate	brain
20	chr5:81003400-81013200	Weak transcription	HSMM	muscle
21	chr5:81003800-81013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:81003800-81014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:81004000-81014000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
25	chr5:81005400-81014200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:81005400-81014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:81005400-81015000	Weak transcription	Brain Substantia Nigra	brain
28	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:81006000-81013600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
31	chr5:81006400-81011800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:81006400-81013000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:81006600-81014200	Weak transcription	Brain Angular Gyrus	brain
34	chr5:81007200-81012000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:81007400-81013800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:81007800-81011800	Weak transcription	Primary T cells from cord blood	blood
37	chr5:81008200-81016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:81008400-81014200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:81008800-81014200	Weak transcription	Right Atrium	heart
40	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:81009200-81013600	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:81010800-81011600	Strong transcription	Fetal Thymus	thymus
44	chr5:81010800-81011800	ZNF genes & repeats	GM12878-XiMat	blood
45	chr5:81010800-81016000	Genic enhancers	Dnd41	blood
46	chr5:81011000-81011600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:81011000-81012000	Enhancers	Psoas Muscle	Psoas
48	chr5:81011000-81014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:81011200-81013600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:81011400-81011600	Enhancers	Brain Inferior Temporal Lobe	brain

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